Publications by authors named "Javier Luís"

28 Publications

  • Page 1 of 1

The Ami and Yami aborigines of Taiwan and their genetic relationship to East Asian and Pacific populations.

Eur J Hum Genet 2021 Mar 23. Epub 2021 Mar 23.

Department of Molecular Biology, Colorado College, Colorado Springs, CO, USA.

This article reports on the genetic characteristics of the Ami and Yami, two aboriginal populations of Taiwan. Y-SNP and mtDNA markers as well as autosomal SNPs were utilized to investigate the phylogenetic relationships to groups from MSEA (mainland Southeast Asia), ISEA (island Southeast Asia), and Oceania. Both the Ami and Yami have limited genetic diversity, with the Yami having even less diversity than the Ami. The partitioning of populations within the PCA plots based on autosomal SNPs, the profile constitution observed in the structure analyses demonstrating similar composition among specific populations, the average IBD (identical by descent) tract length gradients, the average total length of genome share among the populations, and the outgroup f3 results all indicate genetic affinities among populations that trace a geographical arc from Taiwan south into the Philippine Archipelago, Borneo, Indonesia, and Melanesia. Conversely, a more distant kinship between the Ami/Yami and MSEA based on all the markers examined, the total mtDNA sequences as well as the admixture f3 and f4 analyses argue against strong genetic contribution from MSEA to the Austronesian dispersal. The sharing of long IBD tracts, total genome length, and the large number of segments in common between the Ami/Yami and the Society Archipelago populations East Polynesia standout considering they are located about 10,700 km apart.
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http://dx.doi.org/10.1038/s41431-021-00837-6DOI Listing
March 2021

The Y chromosome of autochthonous Basque populations and the Bronze Age replacement.

Sci Rep 2021 Mar 10;11(1):5607. Epub 2021 Mar 10.

Department of Molecular Biology, Colorado College, Colorado Springs, CO, 80903, USA.

Here we report on the Y haplogroup and Y-STR diversity of the three autochthonous Basque populations of Alava (n = 54), Guipuzcoa (n = 30) and Vizcaya (n = 61). The same samples genotyped for Y-chromosome SNPs were typed for 17 Y-STR loci (DYS19, DYS385a/b, DYS398I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA H4) using the AmpFlSTR Yfiler system. Six major haplogroups (R, I, E, J, G, and DE) were detected, being R-S116 (P312) haplogroup the most abundant at 75.0% in Alava, 86.7% in Guipuzcoa and 87.3% in Vizcaya. Age estimates for the R-S116 mutation in the Basque Country are 3975 ± 303, 3680 ± 345 and 4553 ± 285 years for Alava, Guipuzcoa and Vizcaya, respectively. Pairwise Rst genetic distances demonstrated close Y-chromosome affinities among the three autochthonous Basque populations and between them and the male population of Ireland and Gascony. In a MDS plot, the population of Ireland segregates within the Basque cluster and closest to the population of Guipuzcoa, which plots closer to Ireland than to any of the other Basque populations. Overall, the results support the notion that during the Bronze Age a dispersal of individuals carrying the R-S116 mutation reached the Basque Country replacing the Paleolithic/Neolithic Y chromosome of the region.
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http://dx.doi.org/10.1038/s41598-021-84915-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7970938PMC
March 2021

The Y-chromosome of the Soliga, an ancient forest-dwelling tribe of South India.

Gene X 2020 Dec 13;5:100026. Epub 2020 Jan 13.

Department of Molecular Biology, Colorado College, Colorado Springs, CO 80903, USA.

A previous autosomal STR study provided evidence of a connection between the ancient Soliga tribe at the southern tip of the Indian subcontinent and Australian aboriginal populations, possibly reflecting an eastbound coastal migration circa (15 Kya). The Soliga are considered to be among India's earliest inhabitants. In this investigation, we focus on the Y chromosomal characteristics shared between the Soliga population and other Indian tribes as well as western Eurasia and Sub-Saharan Africa groups. Some noteworthy findings of this present analysis include the following: The three most frequent haplogroups detected in the Soliga population are F*, H1 and J2. F*, the oldest (43 to 63 Kya), has a significant frequency bias in favor of Indian tribes versus castes. This observation coupled with the fact that Y-STR haplotypes shared with sub-Saharan African populations are found only in F* males of the Soliga, Irula and Kurumba may indicate a unique genetic connection between these Indian tribes and sub-Saharan Africans. In addition, our study suggests that haplogroup H is confined mostly to South Asia and immediate neighbors and the H1 network may indicate minimal sharing of Y-STR haplotypes among South Asian collections, tribal and otherwise. Also, J2, brought into India by Neolithic farmers, is present at a significantly higher frequency in caste versus tribal communities. This last observation may reflect the marginalization of Indian tribes to isolated regions not ideal for agriculture.
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http://dx.doi.org/10.1016/j.gene.2019.100026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286085PMC
December 2020

Afghanistan: conduits of human migrations identified using AmpFlSTR markers.

Int J Legal Med 2019 Nov 7;133(6):1659-1666. Epub 2019 Mar 7.

Department of Molecular Biology, Colorado College, 14 East Cache La Poudre Street, Colorado Springs, CO, 80903-3294, USA.

This study describes autosomal STR profiles of the populations of South and North Afghanistan. A total of 188 unrelated individuals residing north (n = 42) and south (n = 146) of the Hindu Kush Range within the territory of Afghanistan were examined against the background of 54 geographically targeted reference populations from Eurasia and North East Africa. The main objective of this study was to investigate longitudinal gene flow across the Hindu Kush Range and Eurasia. Genetic differentiation tests between North and South Afghanistan generated insignificant genetic differences for all loci. Multidimensional scaling (MDS) plots based on Fst distances and Neighbor-Joining (N-J) analysis indicated genetic affinities between the Afghani groups and Indian/Near East/West Asian populations. Admixture and Structure analyses demonstrate a gradient of genetic continuity within a major east to west cline that includes North and South Afghanistan as intermediate populations. Overall, although Afghanistan is surrounded by a number of natural barriers, instead of an isolated territory, it has been a genetically porous region providing a migrational nexus to the rest of Eurasia.
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http://dx.doi.org/10.1007/s00414-019-02018-zDOI Listing
November 2019

The Marquesans at the fringes of the Austronesian expansion.

Eur J Hum Genet 2019 May 25;27(5):801-810. Epub 2019 Jan 25.

Department of Molecular Biology, Colorado College, Colorado Springs, CO, 80903, USA.

In the present study, 87 unrelated individuals from the Marquesas Archipelago in French Polynesia were typed using mtDNA, Y-chromosome and autosomal (STRs) markers and compared to key target populations from Island South East Asia (ISEA), Taiwan, and West and East Polynesia to investigate their genetic relationships. The Marquesas, located at the eastern-most fringes of the Austronesian expansion, offer a unique opportunity to examine the effects of a protracted population expansion wave on population structure. We explore the contribution of Melanesian, Asian and European heritage to the Marquesan islands of Nuku-Hiva, Hiva-Oa and Tahuata. Overall, the Marquesas Islands are genetically homogeneous. In the Marquesan Archipelago all of the mtDNA haplogroups are of Austronesian origin belonging to the B4a1 subhaplogroup as the region marks the end of a west to east decreasing cline of Melanesian mtDNA starting with the West Polynesian population of Tonga. Genetic discrepancies are less pronounced between the Marquesan and Society islands, and among the Marquesan islands. Interestingly, a number of Melanesian, Polynesian and European Y-chromosome haplogroups exhibit very different distribution between the Marquesan islands of Nuku Hiva and Hiva Oa, likely resulting from drift, differential migration involving various source populations and/or unique trading routes.
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http://dx.doi.org/10.1038/s41431-019-0336-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461844PMC
May 2019

Metazoan evolution of glutamate receptors reveals unreported phylogenetic groups and divergent lineage-specific events.

Elife 2018 11 22;7. Epub 2018 Nov 22.

Molecular Physiology of the Synapse Laboratory, Biomedical Research Institute Sant Pau, Barcelona, Spain.

Glutamate receptors are divided in two unrelated families: ionotropic (iGluR), driving synaptic transmission, and metabotropic (mGluR), which modulate synaptic strength. The present classification of GluRs is based on vertebrate proteins and has remained unchanged for over two decades. Here we report an exhaustive phylogenetic study of GluRs in metazoans. Importantly, we demonstrate that GluRs have followed different evolutionary histories in separated animal lineages. Our analysis reveals that the present organization of iGluRs into six classes does not capture the full complexity of their evolution. Instead, we propose an organization into four subfamilies and ten classes, four of which have never been previously described. Furthermore, we report a sister class to mGluR classes I-III, class IV. We show that many unreported proteins are expressed in the nervous system, and that new Epsilon receptors form functional ligand-gated ion channels. We propose an updated classification of glutamate receptors that includes our findings.
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http://dx.doi.org/10.7554/eLife.35774DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307864PMC
November 2018

Investigating the genetic diversity and affinities of historical populations of Tibet.

Gene 2019 Jan 26;682:81-91. Epub 2018 Sep 26.

Department of Molecular Biology, Colorado College, Colorado Springs, CO 80903, USA.

This study elucidates Y chromosome distribution patterns in the three general provincial populations of historical Tibet, Amdo (n = 88), Dotoe (n = 109) and U-Tsang (n = 153) against the backdrop of 37 Asian reference populations. The central aim of this study is to investigate the genetic affinities of the three historical Tibetan populations among themselves and to neighboring populations. Y-SNP and Y-STR profiles were assessed in these historical populations. Correspondence analyses (CA) were generated with Y-SNP haplogroup data. Y-STR haplotypes were determined and employed to generate multidimensional scaling (MDS) plots based on Rst distances. Frequency contour maps of informative Y haplogroups were constructed to visualize the distributions of specific chromosome types. Network analyses based on Y-STR profiles of individuals under specific Y haplogroups were generated to examine the genetic heterogeneity among populations. Average gene diversity values and other parameters of population genetics interest were estimated to characterize the populations. The Y chromosomal results generated in this study indicate that using two sets of markers (Y-SNP, and Y-STR) the three Tibetan populations are genetically distinct. In addition, U-Tsang displays the highest gene diversity, followed by Amdo and Dotoe. The results of this transcontinental biogeographical investigation also indicate various degrees of paternal genetic affinities among these three Tibetan populations depending on the type of loci (Y-SNP or Y-STR) analyzed. The CA generated with Y-SNP haplogroup data demonstrates that Amdo and U-Tsang are closer to each other than to any neighboring non-Tibetan group. In contrast, the MDS plot based on Y-STR haplotypes displays Rst distances that are much shorter between U-Tsang and its geographic nearby populations of Ladakh, Punjab, Kathmandu and Newar than between it and Amdo. Moreover, although Dotoe is isolated from all other groups using both types of marker systems, it lies nearer to the other Tibetan collections in the Y-SNP CA than in the Y-STR MDS plot. High resolution and shallow evolutionary time frames engendered by Y-STR based analyses may reflect a more recent demographic history than that delineated by the more conserved Y-SNP markers.
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http://dx.doi.org/10.1016/j.gene.2018.09.043DOI Listing
January 2019

Taino and African maternal heritage in the Greater Antilles.

Gene 2017 Dec 12;637:33-40. Epub 2017 Sep 12.

Department of Molecular Biology, Colorado College, Colorado Springs, CO 80903, USA.

Notwithstanding the general interest and the geopolitical importance of the island countries in the Greater Antilles, little is known about the specific ancestral Native American and African populations that settled them. In an effort to alleviate this lacuna of information on the genetic constituents of the Greater Antilles, we comprehensively compared the mtDNA compositions of Cuba, Dominican Republic, Haiti, Jamaica and Puerto Rico. To accomplish this, the mtDNA HVRI and HVRII regions, as well as coding diagnostic sites, were assessed in the Haitian general population and compared to data from reference populations. The Taino maternal DNA is prominent in the ex-Spanish colonies (61.3%-22.0%) while it is basically non-existent in the ex-French and ex-English colonies of Haiti (0.0%) and Jamaica (0.5%), respectively. The most abundant Native American mtDNA haplogroups in the Greater Antilles are A2, B2 and C1. The African mtDNA component is almost fixed in Haiti (98.2%) and Jamaica (98.5%), and the frequencies of specific African haplogroups vary considerably among the five island nations. The strong persistence of Taino mtDNA in the ex-Spanish colonies (and especially in Puerto Rico), and its absence in the French and English excolonies is likely the result of different social norms regarding mixed marriages with Taino women during the early years after the first contact with Europeans. In addition, this article reports on the results of an integrative approach based on mtDNA analysis and demographic data that tests the hypothesis of a southward shift in raiding zones along the African west coast during the period encompassing the Transatlantic Slave Trade.
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http://dx.doi.org/10.1016/j.gene.2017.09.004DOI Listing
December 2017

β-Phenyl quenching of 9-phenylphenalenones: a novel photocyclisation reaction with biological implications.

Phys Chem Chem Phys 2014 Sep;16(35):18813-20

WestCHEM, School of Chemistry, University of Glasgow, Joseph-Black-Building, University Avenue, Glasgow G12 8QQ, UK.

The singlet and triplet excited states of 9-phenylphenalenones undergo β-phenyl quenching (BPQ) via addition of the carbonyl oxygen to the ortho position of the phenyl substituent. This reaction leads to the formation of naphthoxanthenes , which, in the absence of quenchers, undergo a very rapid electrocyclic ring opening reaction reverting to within a few microseconds. Naphthoxanthene contains a remarkably weak C-H bond, which enables efficient hydrogen transfer reactions to suitable acceptors, giving rise to the production of the naphthoxanthenyl radical or the naphthoxanthenium cation, depending on the solvent polarity. The study uncovers a number of new aspects of BPQ and suggests an excited state-mediated metabolic pathway in the biosynthesis of plant fluorones.
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http://dx.doi.org/10.1039/c4cp02783cDOI Listing
September 2014

Expression, purification and characterization of a recombinant fusion protein based on the human papillomavirus-16 E7 antigen.

Springerplus 2013 Dec 12;2(1):12. Epub 2013 Jan 12.

Center for Genetic Engineering and Biotechnology, P.O. Box 6162, Cubanacan, Playa, Havana, 10600 Cuba.

A fusion protein comprising a cell penetrating and immunostimulatory peptide corresponding to residues 32 to 51 of the Limulus polyphemus protein linked to human papillomavirus (HPV)-16 E7 antigen (LALF32-51-E7) was expressed in E. coli BL21 (DE3) cells. The recombinant protein in E. coli accounted for approximately 18% of the total cellular protein and purified with a single affinity chromatographic step. Yields of approximately 38 mg purified LALF32-51-E7 per liter of induced culture was obtained with an overall 52% recovery and constitutes a promising setting for the future production and scaling-up. Purified protein was characterized as soluble aggregates with molecular weight larger than 670 kDa, which is considered an important property to increase the immunogenicity of an antigen preparation. The recombinant fusion protein LALF32-51-E7 will be a promising vaccine candidate for the treatment of HPV-16 related malignancies.
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http://dx.doi.org/10.1186/2193-1801-2-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590404PMC
December 2013

Synthesis and in vitro antiprotozoal evaluation of substituted phenalenone analogues.

Bioorg Med Chem 2010 Jun 28;18(12):4530-4. Epub 2010 Apr 28.

Instituto Universitario de Bio-Orgánica 'Antonio González', Universidad de La Laguna, La Laguna, Tenerife, Canary Islands, Spain.

A set of derivatives encompassing structural modifications on the privileged phenalenone scaffold were assessed for their antiparasitic activities against the most clinically relevant forms of trypanosomiasis and leishmaniasis. Several compounds exhibited leishmanicidal effects at levels comparable or better than the reference drug pentamidine, while the parent phenalenone was shown to have a level of activity against Trypanosoma cruzi comparable to the marketed drug benznidazole.
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http://dx.doi.org/10.1016/j.bmc.2010.04.062DOI Listing
June 2010

Insights on human evolution: an analysis of Alu insertion polymorphisms.

J Hum Genet 2009 Oct 11;54(10):603-11. Epub 2009 Sep 11.

College of Medicine, Florida International University, Miami, FL, USA.

We analyzed the genetic profile of 563 individuals from 12 geographically targeted human populations from Europe, Asia and Africa using 27 human-specific polymorphic Alu insertions. Phylogenetic analyses indicated a clear correspondence between genetic profiles and historical patterns of gene flow and genetic drift. Sub-Saharan African populations (Benin, Cameroon, Kenya and Rwanda) formed a visibly differentiated cluster, indicating the role of the Sahara desert as a strong natural barrier to gene flow. Moreover, a higher than expected genetic affinity between populations from Europe, North Africa and Asia was detected, probably reflecting the homogenizing effects of bidirectional migratory processes between Eurasia and North Africa during the Plio-Pleistocene and Neolithic periods or the insensitivity of these markers in discriminating between these groups. The Ami aborigines of Formosa present a distinctive degree of genetic uniqueness from all the other groups, consistent with a pattern of isolation by distance, small population size and, accordingly, substantial genetic drift. We further tested all 27 Alu loci for their potential usefulness as ancestry informative markers (AIMs). On the basis of differences between weighted allelic frequencies (delta-values) and F(ST) values, we propose that 11 of the 27 Alu elements could be useful as part of the current AIM panels to assess phylogenetic relationships.
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http://dx.doi.org/10.1038/jhg.2009.86DOI Listing
October 2009

Semisynthesis and biological evaluation of abietane-type diterpenes. Revision of the structure of rosmaquinone.

J Nat Prod 2009 Aug;72(8):1385-9

Instituto Universitario de Bio-Organica "Antonio Gonzalez", Departamento de Quimica Organica, Universidad de La Laguna, Avenida Astrofisico Francisco Sanchez 2, 38206 La Laguna, Tenerife, Canary Islands, Spain.

The new aromatic diterpenes 7beta-O-benzylrosmanol (3), 7beta-O-benzyl-11,12-di-O-methylrosmanol (4), and 7alpha-thiophenylcarnosic acid (5) have been obtained by partial synthesis from carnosol (1), an abundant natural diterpene present in Salvia species. The structures of these compounds were established from their physical and spectroscopic data. The known diterpenes sagequinone methide A (6), 7beta-O-methylrosmanol (7), 7-O-methylrosmanol (8), and rosmaquinone B (9) were obtained from rosmanol (2). The spectroscopic data of these semisynthetic diterpenes were identical to data reported in the literature. In addition, the new semisynthetic isorosmaquinone (10) was obtained from isorosmanol (12). The proton resonances of rosmaquinone (11) are reassigned based on 2D NMR spectroscopy. These compounds, as well as eight known analogues, were evaluated for cytotoxic and antimicrobial activities.
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http://dx.doi.org/10.1021/np900047pDOI Listing
August 2009

Self-expanding hemostatic polymer for control of exsanguinating extremity bleeding.

J Trauma 2009 Apr;66(4):984-8

Division of Trauma, Emergency Surgery, and Surgical Critical Care, Harvard Medical School, The Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

Background: Prehospital management of exsanguinating extremity injuries (EEI) includes direct compression or tourniquets or both. Direct compression may be ineffective in deep wounds and requires a person committed to compressing. Tourniquets may cause severe ischemic damage and may be ineffective in proximal wounds. This study aims to examine a new self-expanding hemostatic polymer (SEHP) for control of EEI. In contact with blood, the polymer absorbs the aqueous component of blood and exerts a tamponade effect by expanding against the walls of the wound cavity.

Methods: Twenty-one pigs were subjected to a validated and reproducible model of lethal proximal extremity injury by transecting soft tissues and the femoral vessels. The pigs were left to bleed uncontrollably for 3 minutes and then randomized to receive either a standard compression dressing (Control group, N = 10) or SEHP (SEHP group, N = 11). After 5 minutes of manual compression, the dressing or SEHP were left in the wound and the animals resuscitated more than 2 hours. One animal in each group died soon after the injury before application of the dressings and was removed from final analysis.

Results: SEHP animals had lower blood loss (1358 mL +/- 97 mL) than the Control animals (2028 mL +/- 177 mL, p = 0.006). The mortality was 55% in the Control group and 0% in the SEHP group (p = 0.006).

Conclusion: SEHP is a novel, light, and portable material to control EEI effectively. It does not require another person for compression nor does it compromise the circulation. As EEI occurs with alarming frequency in the battlefield, SEHP may not only present an optimal hemostatic method for military applications but also be useful in the civilian prehospital setting.
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http://dx.doi.org/10.1097/TA.0b013e31819ce457DOI Listing
April 2009

Middle Eastern and European mtDNA lineages characterize populations from eastern Crete.

Am J Phys Anthropol 2008 Oct;137(2):213-23

Department of Biological Sciences, Florida International University, Miami, Florida 33199, USA.

Throughout centuries, the geographic location of the island of Crete has been one of the leading factors shaping the composition of its population. Invasions and commercial and cultural ties at various time periods with European, Middle Eastern, and North African civilizations have created a collage of genetic and/or cultural influences from each of these regions within the island. Previous Y-chromosome diversity analyses uncovered pronounced differences in the frequency distribution of haplogroups from a mountain refugium and surrounding lowland populations of eastern Crete. In this study, the current geographic stratification of mtDNA haplotypes in eastern Crete was explored to elucidate potential sources of maternal gene flow. Our work includes a comparative characterization of two lowland collections from the Heraklion and Lasithi Prefectures in eastern Crete, as well as of an isolated mountain population from the Lasithi Plateau, all three previously examined using Y-chromosome markers. In addition to the presence of European mtDNA haplogroups in all three collections, our analyses reveal a significant contribution of Middle Eastern and Central Asian genetic signatures in the island of Crete, and particularly in the two populations from the Lasithi region at the eastern-most portion of the island. Close association between these Cretan groups and the Balkans can also be discerned, which in the case of the Lasithi Plateau corroborates previously uncovered Y-chromosome affiliations with the same geographic region.
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http://dx.doi.org/10.1002/ajpa.20857DOI Listing
October 2008

North Indian Muslims: enclaves of foreign DNA or Hindu converts?

Am J Phys Anthropol 2007 Jul;133(3):1004-12

Department of Biological Sciences, Florida International University, University Park, Miami, FL 33199, USA.

The mtDNA composition of two Muslim sects from the northern Indian province of Uttar Pradesh, the Sunni and Shia, have been delineated using sequence information from hypervariable regions 1 and 2 (HVI and HVII, respectively) as well as coding region polymorphisms. A comparison of this data to that from Middle Eastern, Central Asian, North East African, and other Indian groups reveals that, at the mtDNA haplogroup level, both of these Indo-Sunni and Indo-Shia populations are more similar to each other and other Indian groups than to those from the other regions. In addition, these two Muslim sects exhibit a conspicuous absence of West Asian mtDNA haplogroups suggesting that their maternal lineages are of Indian origin. Furthermore, it is noteworthy that the maternal lineage data indicates differences between the Sunni and Shia collections of Uttar Pradesh with respect to the relative distributions of Indian-specific M sub-haplogroups (Indo Shia > Indo Sunni) and the R haplogroup (Indo Sunni > Indo Shia), a disparity that does not appear to be related to social status or geographic regions within India. Finally, the mtDNA data integrated with the Y-chromosome results from an earlier study, which indicated a major Indian genetic (Y-chromosomal) contribution as well, suggests a scenario of Hindu to Islamic conversion in these two populations. However, given the substantial level of the African/Middle Eastern YAP lineage in the Indo-Shia versus its absence in the Indo-Sunni, it is likely that this conversion was somewhat gender biased in favor of females in the Indo-Shia.
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http://dx.doi.org/10.1002/ajpa.20600DOI Listing
July 2007

Abietane diterpenoids from Salvia pachyphylla and S. clevelandii with cytotoxic activity against human cancer cell lines.

J Nat Prod 2006 Dec;69(12):1803-5

Facultad de Ciencias Químicas e Ingeniería, Universidad Autónoma de Baja California, Calzada Tecnológico 14418, Mesa de Otay, C.P. 22390 Tijuana, Baja California, Mexico.

A phytochemical study has been carried out on the aerial parts of Salvia pachyphylla and S. clevelandii. From S. pachyphylla, the known diterpenes carnosol (2), rosmanol, 20-deoxocarnosol (3), carnosic acid, isorosmanol (4), 7-methoxyrosmanol, 5,6-didehydro-O-methylsugiol (5), 8beta-hydroxy-9(11),13-abietadien-12-one (6), 11,12-dioxoabieta-8,13-diene, and 11,12-dihydroxy-20-norabieta-5(10),8,11,13-tetraen-1-one were isolated, together with the new diterpene pachyphyllone (1). From S. clevelandii, the known diterpenes rosmadial (7), 16-hydroxycarnosol (8), abieta-8,11,13-triene, and taxodone were obtained, together with carnosol (2), rosmanol, and carnosic acid. The structure of the new compound (1) was identified on the basis of spectroscopic data analysis. Several of these compounds (1-8) were evaluated against a small panel of human cancer cell lines.
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http://dx.doi.org/10.1021/np060279iDOI Listing
December 2006

Ancient retroviral insertions among human populations.

J Hum Genet 2006 4;51(4):353-362. Epub 2006 Mar 4.

Department of Biological Sciences, Florida International University, University Park, OE 304, Miami, FL, 33199, USA.

Human endogenous retroviruses (HERVs) represent vestiges of ancient infections that resulted in stable integration of the viral genome. These insertional elements of viral origin are in fact molecular fossils and, as such, a source of evolutionary information. A family of HERV insertions designated HERV-K includes members that are still polymorphic for the original insertional event. The goal of this report is to describe a novel genetic marker system based on polymorphic retroviral insertions (PRVIs) and to assess its potential usefulness in human population genetic analyses. The allelic frequencies of four insertionally polymorphic HERV-K loci were analyzed in nine geographically targeted, worldwide populations. A polymerase chain reaction assay was employed to examine the frequencies of the provirus and/or solo long terminal repeat insertions at these four loci. Several statistical and phylogenetic analyses were performed based on the frequency data. The phylogenetic relationships observed among the nine populations based on the four retroviral HERV-K loci are consistent not only with prior genetic analyses with other traditional marker systems but also with reported historical and biogeographical data. These polymorphic endogenous retroviral sequences display features that make them excellent tools for forensic and population genetic studies.
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http://dx.doi.org/10.1007/s10038-006-0370-0DOI Listing
May 2006

Quinone derivatives by chemical transformations of 16-hydroxycarnosol from Salvia species.

Chem Pharm Bull (Tokyo) 2005 Dec;53(12):1524-9

Instituto Universitario de Bio-Orgánica Antonio González, Universidad de La Laguna, Tenerife, Canary Islands, Spain.

The known diterpenes 12,16-epoxycarnosol (2), isotanshinone II (6), and (+)-neocryptotanshinone (8) were obtained by partial synthesis from 16-hydroxycarnosol (1), a C-16 hydroxylated abietatriene diterpene isolated in relative abundance from the aerial part of Salvia mellifera GREENE. The physical and spectroscopic data of these semisynthetic diterpenes were identical to those given for the natural ones in the literature. These abietane diterpenes have very interesting biological activities and the semisynthetic approach described here represents an alternative to obtain them from other major diterpenes isolated from Salvia species. Additionally, seven new semisynthetic diterpene analogues, 11,14-dioxo-12,16-epoxy-8,12-abietadien-20,7beta-olide (3), 11,14-dioxo-12,16-epoxy-8,12,15(16)-abietatrien-20,7beta-olide (4), 15,16-didehydro-12,16-epoxycarnosol (5), 1-oxoisotanshinone II (7), 16-hydroxycolumbaridione (9), 12,16-diacetoxycolumbaridione (10), and 14-methoxy-12,16-epoxycarnosol (13), were obtained from 1. The structures of the new compounds were established based on their spectroscopic data.
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http://dx.doi.org/10.1248/cpb.53.1524DOI Listing
December 2005

Space Station Biological Research Project (SSBRP) Cell Culture Unit (CCU) and incubator for International Space Station (ISS) cell culture experiments.

J Gravit Physiol 2004 Mar;11(1):93-103

NASA Ames Research Center, Moffett Field, CA 94035, USA.

The CCU and Incubator are habitats under development by SSBRP for gravitational biology research on ISS. They will accommodate multiple specimen types and reside in either Habitat Holding Racks, or the Centrifuge Rotor, which provides selectable gravity levels of up to 2 g. The CCU can support multiple Cell Specimen Chambers, CSCs (18, 9 or 6 CSCs; 3, 10 or 30 mL in volume, respectively). CSCs are temperature controlled from 4-39 degrees C, with heat shock to 45 degrees C. CCU provides automated nutrient supply, magnetic stirring, pH/O2 monitoring, gas supply, specimen lighting, and video microscopy. Sixty sample containers holding up to 2 mL each, stored at 4-39 degrees C, are available for automated cell sampling, subculture, and injection of additives and fixatives. CSCs, sample containers, and fresh/spent media bags are crew-replaceable for long-term experiments. The Incubator provides a 4-45 degrees C controlled environment for life science experiments or storage of experimental reagents. Specimen containers and experiment unique equipment are experimenter-provided. The Specimen Chamber exchanges air with ISS cabin and has 18.8 liters of usable volume that can accommodate six trays and the following instrumentation: five relocatable thermometers, two 60 W power outlets, four analog ports, and one each relative humidity sensor, video port, ethernet port and digital input/output port.
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March 2004

Phototoxic phytoalexins. Processes that compete with the photosensitized production of singlet oxygen by 9-phenylphenalenones.

Photochem Photobiol 2006 Jan-Feb;82(1):95-103

Grup d'Enginyeria Molecular, Institut Químic de Sarrià, Universitat Ramon Llull, E-08017, Barcelona, Spain.

Experiments were performed to elucidate the excited-state behavior of 9-phenylphenalenones, which are phototoxic plant secondary metabolites involved in mechanisms of light-mediated plant defense. Using a combination of time-resolved and steady-state UV/visible spectroscopies, time-resolved IR absorption spectroscopy, time-resolved singlet oxygen phosphorescence measurements and cyclic voltammetry, we provide evidence of an intramolecular charge-transfer process in the excited singlet and the triplet states of 9-phenylphenalenones that modulates the photosensitized production of singlet oxygen.
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http://dx.doi.org/10.1562/2005-04-07-RA-479DOI Listing
June 2006

Light- and singlet oxygen-mediated antifungal activity of phenylphenalenone phytoalexins.

Photochem Photobiol Sci 2004 Jul 5;3(7):706-10. Epub 2004 May 5.

Grup d'Enginyeria Molecular, Institut Químic de Sarrià, Universitat Ramon Llull, Via Augusta 390, 08017-Barcelona, Spain.

The light-induced singlet oxygen production and antifungal activity of phenylphenalenone phytoalexins isolated from infected banana plants (Musa acuminata) are reported. Upon absorption of light energy all studied phenylphenalenones sensitise the production of singlet oxygen in polar and non-polar media. Antifungal activity of these compounds towards Fusarium oxysporum is enhanced in the presence of light. These results, together with the correlation of IC50 values under illumination with the quantum yield of singlet oxygen production and the enhancing effect of D2O on the antifungal activity, suggest the intermediacy of singlet oxygen produced by electronic excitation of the phenylphenalenone phytoalexins.
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http://dx.doi.org/10.1039/b401294aDOI Listing
July 2004

Fungus-elicited metabolites from plants as an enriched source for new leishmanicidal agents: antifungal phenyl-phenalenone phytoalexins from the banana plant (Musa acuminata) target mitochondria of Leishmania donovani promastigotes.

Antimicrob Agents Chemother 2004 May;48(5):1534-40

Centro de Investigaciones Biológicas, E-28040 Madrid, Spain.

Two antifungal phenyl-phenalenone phytoalexins isolated from the banana plant (Musa acuminata) elicited with the fungus Fusarium oxysporum, together with a methoxy derivative of one of them and two epoxide precursors of their chemical synthesis, were tested for leishmanicidal activity on Leishmania donovani promastigotes and L. infantum amastigotes. Drugs inhibited proliferation of both forms of the parasite with a 50% lethal concentration range between 10.3 and 68.7 micro g/ml. Their lethal mechanism was found linked to the respiratory chain by a systematic approach, including electron microscopy, measurement of the oxygen consumption rate on digitonin-permeabilized promastigotes, and enzymatic assays on a mitochondrial enriched fraction. Whereas the whole set of compounds inhibited the activity of fumarate reductase in the mitochondrial fraction (50% effective concentration [EC(50)] between 33.3 and 78.8 micro g/ml) and on purified enzyme (EC(50) = 53.3 to 115 micro g/ml), inhibition for succinate dehydrogenase was only observed for the two phytoalexins with the highest leishmanicidal activity: anigorufone and its natural analogue 2-methoxy-9-phenyl-phenalen-1-one (EC(50) = 33.5 and 59.6 micro g/ml, respectively). These results provided a new structural motif, phenyl-phenalenone, as a new lead for leishmanicidal activity, and support the use of plant extracts enriched in antifungal phytoalexins, synthesized under fungal challenge, as a more rational and effective strategy to screen for new plant leishmanicidal drugs.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC400542PMC
http://dx.doi.org/10.1128/aac.48.5.1534-1540.2004DOI Listing
May 2004

Rhoiptelenol and rhoiptelenone, two pentacyclic triterpenes from Sideritis macrostachya.

Z Naturforsch C J Biosci 2003 Sep-Oct;58(9-10):621-5

Instituto de Productos Naturales y Agrobiología C. S. I. C., Avda. Astrofísico F. Sánchez 3, PO Box 195, 38206 La Laguna, Tenerife, Canary Islands, Spain.

The pentacyclic triterpenes rhoiptelenol and rhoiptelenone have been isolated from Sideritis macrostachya. Rhoiptelenone is a new natural compound, whose structure has been determined as D:B-friedo-urs-5-en-3-one. The 1H and 13C NMR spectra of rhoiptelenol, rhoiptelenol acetate and glutinol have been reassigned. The natural occurrence of the D:B-friedo-ursene and D:B-friedo-oleanene derivatives has been examined.
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http://dx.doi.org/10.1515/znc-2003-9-1002DOI Listing
January 2004

Two problematic human polymorphic Alu insertions.

Electrophoresis 2003 Jul;24(14):2290-4

Department of Biological Sciences, Florida International University, Miami, FL, USA.

Analysis of two previously described polymorphic Alu insertions (Sb19.3 and NBC3) in world-wide human populations generated genotypic frequencies grossly in violation of Hardy-Weinberg equilibrium expectations. GenBank searches at the National Center for Biotechnology Information (NCBI) and sequencing analyses revealed that samples homozygous for the Sb19.3 Alu insertion amplify a band indistinguishable in size to the lack of insertion amplicon, corresponding to a paralogous locus on chromosome 4. This locus displays a very similar sequence (84%) to that flanking the Sb19.3 Alu insertion located at chromosome 19. Moreover, we have determined that NBC3, a different Alu insertion, is not located in the pseudoautosomal region of the Y-chromosome, as previously reported, but in position Yq11.2. Also, the band that mimics the lack of insertion amplicon corresponds to a paralogous locus located at chromosome X with a similarity of 92% to the sequence flanking the NBC3 Alu insertion. Finally, the utilization of newly designed primers avoided amplification from the paralogous loci and allowed a reliable assignation of genotypes for both loci. Unlike previously reported, using our new primers the Y-specific locus NBC3 was found not to be polymorphic in the populations analyzed.
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http://dx.doi.org/10.1002/elps.200305451DOI Listing
July 2003

[Isolated dietary counselling program versus supplement and dietary counselling in patients with human immunodeficiency virus infection].

Med Clin (Barc) 2003 Apr;120(15):565-7

Sección de Endocrinología y Nutrición Clínica. Unidad de Apoyo a la Investigación. Hospital del Río Hortega. Valladolid. Servicio de Medicina Interna. Instituto de Endocrinología y Nutrición (IEN). Valladolid. Spain.

Background And Objective: Nutritional intervention is a controversial area. The aim of the study was to compare the influence on nutritional status of nutritional supplementation with a standard polymeric formula as well as nutritional counselling versus isolated nutritional counselling in a group of HIV-infected patients.

Patients And Method: There were 70 patients, 66 of whom were fully evaluated for each study end point after application of prospectively determined evaluability criteria. Of these, 35 were randomized to group I (standard formula) and 35 were randomized to unsupplemented group II. Group I patients received standard enteral formula (3 cans/day, 250 ml per can). Patients were submitted to a prospective serial assessment of their nutrition status (anthropometric and biochemical status) and the nutritional intake was determined by means of 24-hours written food records. Determinations were performed at baseline and at 3 months.

Results: Treatment with oral supplements in group I resulted in a significant and sustained increase in weight (2.75%; p < 0.05) which was mostly due to fat mass (10.8%; p < 0.05). In contrast, no changes were detected in group II patients. The increase in body weight and tricipital skinfold was significant in group I. Total body water and fat free-mass remained without changes. CD4 counts and viral load remained stable in both groups.

Conclusions: Oral nutritional supplements for a 3-months period resulted in body weight gain in HIV-infected patients, increasing the fat mass. An isolated nutritional counselling did not result in such an increase.
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http://dx.doi.org/10.1016/s0025-7753(03)73774-9DOI Listing
April 2003

Microgravity studies of cells and tissues.

Ann N Y Acad Sci 2002 Oct;974:504-17

Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.

Controlled in vitro studies of cells and tissues under the conditions of microgravity (simulated on Earth, or actual in space) can improve our understanding of gravity sensing, transduction, and responses in living cells and tissues. This paper discusses the scientific results and practical implications of three NASA-related biotechnology projects: ground and space studies of microgravity tissue engineering (JSC-Houston), and the development of the cell culture unit for use aboard the International Space Station (ARC-Ames).
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http://dx.doi.org/10.1111/j.1749-6632.2002.tb05927.xDOI Listing
October 2002

Semisynthesis of rosmanol and its derivatives. Easy access to abietatriene diterpenes isolated from the genus Salvia with biological activities.

J Nat Prod 2002 Jul;65(7):986-9

Instituto Universitario de Bio-Orgánica Antonio González, Universidad de La Laguna, Avenida Astrofísico Francisco Sánchez 2, 38206 La Laguna, Tenerife, Canary Islands, Spain.

The known diterpenes rosmanol (3), rosmaquinone (4), 7-methoxyrosmanol (5), 7-ethoxyrosmanol (6), galdosol (7), and epirosmanol (8) have been obtained by partial synthesis from carnosol (2), an abundant natural product present in Salvia species. The physical and spectroscopic data of these semisynthetic diterpenes were identical to those of authentic natural samples and with data reported in the literature. These abietane diterpenes have very interesting biological activities and are present in the genus Salviain low quantities; thus, the semisynthetic approach described here represents an efficient alternative method to obtain these compounds. Additionally, the known diterpene 16-hydroxyrosmanol (10) and a new aromatic diterpene 11 were obtained from 16-hydroxycarnosol (9) by reaction with Ph3P/NBS in CH2Cl2. The structure of the new compound 11 was established from its spectroscopic data as 12,16-epoxycarnosol.
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http://dx.doi.org/10.1021/np010565oDOI Listing
July 2002