45 results match your criteria disequilibrium testis

Chromosome level reference of Atlantic halibut Hippoglossus hippoglossus provides insight into the evolution of sexual determination systems.

Mol Ecol Resour 2021 Mar 2. Epub 2021 Mar 2.

Biology Department, Dalhousie University, Halifax, NS, Canada.

Changes in the genetic mechanisms that control sexual determination have occurred independently across the tree of life, and with exceptional frequency in teleost fishes. To investigate the genomic changes underlying the evolution of sexual determination, we sequenced a chromosome-level genome, multitissue transcriptomes, and reduced representation population data for the Atlantic halibut (Hippoglossus hippoglossus), which has an XY/XX sex determination mechanism and has recently diverged (0.9-3. Read More

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Identification of a functional human-unique 351-bp Alu insertion polymorphism associated with major depressive disorder in the 1p31.1 GWAS risk loci.

Neuropsychopharmacology 2020 06 20;45(7):1196-1206. Epub 2020 Mar 20.

Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China.

Genome-wide association studies (GWAS) have reported substantial single-nucleotide polymorphisms (SNPs) associated with major depressive disorder (MDD), but the underlying functional variations in the GWAS risk loci are unclear. Here we show that the European MDD genome-wide risk-associated allele of rs12129573 at 1p31.1 is associated with MDD in Han Chinese, and this SNP is in strong linkage disequilibrium (LD) with a human-unique Alu insertion polymorphism (rs70959274) in the 5' flanking region of a long non-coding RNA (lncRNA) LINC01360 (Long Intergenic Non-Protein Coding RNA 1360), which is preferably expressed in human testis in the currently available expression datasets. Read More

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Genetic effects of DSCAML1 identified in genome-wide association study revealing strong associations with litter size and semen quality in goat (Capra hircus).

Theriogenology 2020 Apr 1;146:20-25. Epub 2020 Feb 1.

College of Animal Science and Technology, Northwest A&F University, Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, Key Laboratory of Animal Biotechnology, Ministry of Agriculture, No. 22 Xinong Road, Yangling, Shaanxi, 712100, China. Electronic address:

The down syndrome cell adhesion molecule like 1 (DSCAML1), is associated with the development of the nervous system and neurologic diseases. Previous Genome-wide association studies have shown that it is associated with sperm morphology, suggesting it has a critical role in fecundity. In this study, expression profiles of goat DSCAML1 mRNA were analyzed. Read More

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Dual Roles for the TSPYL Family in Mediating Serotonin Transport and the Metabolism of Selective Serotonin Reuptake Inhibitors in Patients with Major Depressive Disorder.

Clin Pharmacol Ther 2020 03 30;107(3):662-670. Epub 2019 Nov 30.

Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota, USA.

We previously reported that testis-specific Y-encoded-like protein (TSPYLs) are transcription regulators for CYP3A4, CYP2C9, and CYP2C19. Here, we observed dual roles for TSPYLs in mediating serotonin transport and the metabolism of selective serotonin reuptake inhibitors (SSRIs) in patients with major depressive disorder (MDD). The widely prescribed SSRIs, citalopram, and escitalopram are metabolized mainly by CYP2C19. Read More

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A 14-bp functional deletion within the CMTM2 gene is significantly associated with litter size in goat.

Theriogenology 2019 Nov 23;139:49-57. Epub 2019 Jul 23.

College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, 712100, PR China. Electronic address:

CKLF-like MARVEL transmembrane domain-containing 2 (CMTM2) plays an important role in animal reproduction, and abnormal CMTM2 expression leads to spermatogenesis disorders. This study was conducted to assess the role of CMTM2 in goat reproduction by investigating an insertion/deletion (indel) variation and its effect on litter size, and to reveal its functional mechanism. A 14-base pair (bp) indel was found at position -861 to -848 nt of the CMTM2 promoter in 1131 female Shaanbei white cashmere goats. Read More

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November 2019

Insertion/Deletion Within the KDM6A Gene Is Significantly Associated With Litter Size in Goat.

Front Genet 2018 20;9:91. Epub 2018 Mar 20.

College of Animal Science and Technology, Northwest A&F University, Yangling, China.

A previous whole-genome association analysis identified (), which encodes a type of histone demethylase, as a candidate gene associated to goat fecundity. gene knockout mouse disrupts gametophyte development, suggesting that it has a critical role in reproduction. In this study, goat mRNA expression profiles were determined, insertion/deletion (indel) variants in the gene identified, indel variants effect on gene expression assessed, and their association with first-born litter size analyzed in 2326 healthy female Shaanbei white cashmere goats. Read More

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Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of .

Mol Vis 2017 14;23:318-333. Epub 2017 Jun 14.

Department of Ophthalmology; NIBR Informatics, Novartis Institutes for Biomedical Research, Cambridge, MA.

Purpose: A region within chromosome 10q26 has a set of single nucleotide polymorphisms (SNPs) that define a haplotype that confers high risk for age-related macular degeneration (AMD). We used a bioinformatics approach to search for genes in this region that may be responsible for risk for AMD by assessing levels of gene expression in individuals carrying different haplotypes and by searching for open chromatin regions in the retinal pigment epithelium (RPE) that might include one or more of the SNPs.

Methods: We surveyed the PubMed and the 1000 Genomes databases to find all common (minor allele frequency > 0. Read More

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Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group.

Genes Chromosomes Cancer 2017 07 4;56(7):548-558. Epub 2017 Apr 4.

Division of Epidemiology & Clinical Research, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.

Germ cell tumors (GCT) are a rare form of childhood cancer that originate from the primordial germ cell. Recent genome-wide association studies (GWAS) have identified susceptibility alleles for adult testicular GCT (TGCT). We test whether these SNPs are associated with GCT in pediatric and adolescent populations. Read More

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MMP2, MMP9 and TIMP2 polymorphisms affect sperm parameters but not fertility in Polish males.

Andrologia 2017 Jun 12;49(5). Epub 2016 Jul 12.

Department of Experimental and Clinical Pharmacology, Pomeranian Medical University, Szczecin, Poland.

Proper function of the blood-testis barrier is pivotal to spermatogenesis. Synchronised action of matrix metalloproteinases (MMP) and their inhibitors (TIMP) is mandatory to maintain dynamic balance of the barrier. Therefore, the association of functional genetic variants of MMP-2, MMP-9 and TIMP-2 and male infertility was studied. Read More

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Doublesex and mab-3 related transcription factor 1 (DMRT1) is a sex-specific genetic determinant of childhood-onset asthma and is expressed in testis and macrophages.

J Allergy Clin Immunol 2016 08 20;138(2):421-31. Epub 2016 Feb 20.

Institute of Pathology, Hannover Medical School, Hannover, Germany.

Background: Asthma is a disease affecting more boys than girls in childhood and more women than men in adulthood. The mechanisms behind these sex-specific differences are not yet understood.

Objective: We analyzed whether and how genetic factors contribute to sex-specific predisposition to childhood-onset asthma. Read More

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Exposure to endocrine disruptor induces transgenerational epigenetic deregulation of microRNAs in primordial germ cells.

PLoS One 2015 21;10(4):e0124296. Epub 2015 Apr 21.

Department of Cellular and Molecular Biology, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain.

In mammals, germ cell differentiation is initiated in the Primordial Germ Cells (PGCs) during fetal development. Prenatal exposure to environmental toxicants such as endocrine disruptors may alter PGC differentiation, development of the male germline and induce transgenerational epigenetic disorders. The anti-androgenic compound vinclozolin represents a paradigmatic example of molecule causing transgenerational effects on germ cells. Read More

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Genome-wide association analyses for boar taint components and testicular traits revealed regions having pleiotropic effects.

BMC Genet 2015 Apr 9;16:36. Epub 2015 Apr 9.

Institute of Animal Science, University of Bonn, Endenicher Allee 15, 53115, Bonn, Germany.

Background: The aim of this study was to perform a genome-wide association analyses (GWAS) for androstenone, skatole and indole in different Pietrain sire lines and compare the results with previous findings in purebred populations. Furthermore, the genetic relationship of androstenone and skatole were investigated with respect to pleiotropy. In order to characterize the performance of intact boars, crossbred progenies of 136 Pietrain boars mated to crossbred sows from three different breeding companies were tested on four test stations. Read More

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Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ).

BMC Neurosci 2015 12 23;16(1):96. Epub 2015 Dec 23.

UNAM-Institute of Materials Science and Nanotechnology, Bilkent University, Ankara, Turkey.

Background: WDR81 (WD repeat-containing protein 81) is associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ2, [MIM 610185]). Human and mouse studies suggest that it might be a gene of importance during neurodevelopment. This study aimed at fully characterizing the structure of the wdr81 transcript, detecting the possible transcript variants and revealing its expression profile in zebrafish, a powerful model organism for studying development and disease. Read More

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December 2015

Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice.

BMC Genet 2014 Dec 5;15:135. Epub 2014 Dec 5.

Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, 8701 Watertown Plank, Milwaukee, WI, 53226, USA.

Background: Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain, and genital abnormalities. Blind sterile (bs) mice carry a Tbc1d20-null mutation and exhibit cataracts and testicular phenotypes similar to those observed in WARBM4 patients. In addition to TBC1D20, mutations in RAB3GAP1, RAB3GAP2 and RAB18 cause WARBM1-3 respectively. Read More

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December 2014

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

J Urol 2015 May 25;193(5):1637-45. Epub 2014 Oct 25.

Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Molecular Medicine, Sapienza University, Rome, Italy.

Purpose: Based on a genome-wide association study of testicular dysgenesis syndrome showing a possible association with TGFBR3, we analyzed data from a larger, phenotypically restricted cryptorchidism population for potential replication of this signal.

Materials And Methods: We excluded samples based on strict quality control criteria, leaving 844 cases and 2,718 controls of European ancestry that were analyzed in 2 separate groups based on genotyping platform (ie Illumina® HumanHap550, version 1 or 3, or Human610-Quad, version 1 BeadChip in group 1 and Human OmniExpress 12, version 1 BeadChip platform in group 2). Analyses included genotype imputation at the TGFBR3 locus, association analysis of imputed data with correction for population substructure, subsequent meta-analysis of data for groups 1 and 2, and selective genotyping of independent cases (330) and controls (324) for replication. Read More

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Genetic association study of RNF8 and BRDT variants with non-obstructive azoospermia in the Chinese Han population.

Syst Biol Reprod Med 2015 Jan 6;61(1):26-31. Epub 2014 Nov 6.

Department of Biology, School of Life Sciences, Anhui Medical University .

Increasing evidence indicates that polymorphisms in genes relevant to spermatogenesis might modulate the efficiency of reproduction in men. Ring finger protein 8 (RNF8) and bromodomain testis-specific (BRDT) are two candidate genes associated with spermatogenesis. Here, we considered potential associations of 14 single nucleotide polymorphisms (SNPs) in RNF8 and BRDT genes in Chinese patients with non-obstructive azoospermia (NOA). Read More

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January 2015

A genome-wide association study points out the causal implication of SOX9 in the sex-reversal phenotype in XX pigs.

PLoS One 2013 6;8(11):e79882. Epub 2013 Nov 6.

INRA, UMR444 LGC, Castanet-Tolosan, France.

Among farm animals, pigs are known to show XX sex-reversal. In such cases the individuals are genetically female but exhibit a hermaphroditism, or a male phenotype. While the frequency of this congenital disease is quite low (less than 1%), the economic losses are significant for pig breeders. Read More

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Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma.

BMC Med Genet 2013 Sep 24;14:97. Epub 2013 Sep 24.

Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.

Background: Tumor-specific, coordinate expression of cancer-testis (CT) genes, mapping to the X chromosome, is observed in more than 60% of non-small cell lung cancer (NSCLC) patients. Although CT gene expression has been unequivocally related to DNA demethylation of promoter regions, the underlying mechanism leading to loss of promoter methylation remains elusive. Polymorphisms of enzymes within the 1-carbon pathway have been shown to affect S-adenosyl methionine (SAM) production, which is the sole methyl donor in the cell. Read More

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September 2013

A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation.

J Med Genet 2012 Jan 3;49(1):58-65. Epub 2011 Dec 3.

Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark.

Background: Testicular dysgenesis syndrome (TDS) is a common disease that links testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. The incidence of these disorders has increased over the last few decades, and testicular cancer now affects 1% of the Danish and Norwegian male population.

Methods: To identify genetic variants that span the four TDS phenotypes, the authors performed a genome-wide association study (GWAS) using Affymetrix Human SNP Array 6. Read More

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January 2012

A replication study examining novel common single nucleotide polymorphisms identified through a prostate cancer genome-wide association study in a Japanese population.

Am J Epidemiol 2011 Dec 15;174(12):1391-5. Epub 2011 Nov 15.

Institute of Health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove, Brisbane, Queensland 4059, Australia.

Five novel prostate cancer risk loci were identified in a recent genome-wide association study (GWAS) of Japanese persons (Takata et al., Nat Genet. 2010;42(9):751-754). Read More

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December 2011

The disequilibrium of nucleosomes distribution along chromosomes plays a functional and evolutionarily role in regulating gene expression.

PLoS One 2011 19;6(8):e23219. Epub 2011 Aug 19.

The CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.

To further understand the relationship between nucleosome-space occupancy (NO) and global transcriptional activity in mammals, we acquired a set of genome-wide nucleosome distribution and transcriptome data from the mouse cerebrum and testis based on ChIP (H3)-seq and RNA-seq, respectively. We identified a nearly consistent NO patterns among three mouse tissues--cerebrum, testis, and ESCs--and found, through clustering analysis for transcriptional activation, that the NO variations among chromosomes are closely associated with distinct expression levels between house-keeping (HK) genes and tissue-specific (TS) genes. Both TS and HK genes form clusters albeit the obvious majority. Read More

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January 2012

Large scale genome-wide association and LDLA mapping study identifies QTLs for boar taint and related sex steroids.

BMC Genomics 2011 Jul 13;12:362. Epub 2011 Jul 13.

NORSVIN (The Norwegian Pig Breeders Association), 2304 Hamar, Norway.

Background: Boar taint is observed in a high proportion of uncastrated male pigs and is characterized by an unpleasant odor/flavor in cooked meat, primarily caused by elevated levels of androstenone and skatole. Androstenone is a steroid produced in the testis in parallel with biosynthesis of other sex steroids like testosterone and estrogens. This represents a challenge when performing selection against androstenone in breeding programs, without simultaneously decreasing levels of other steroids. Read More

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Predictive markers in calpastatin for tenderness in commercial pig populations.

J Anim Sci 2011 Sep 31;89(9):2663-72. Epub 2011 Mar 31.

US Meat Animal Research Center, Clay Center, NE 68933, USA.

The identification of predictive DNA markers for pork quality would allow US pork producers and breeders to select genetically superior animals more quickly and efficiently for the production of consistent, high-quality meat. Genome scans have identified QTL for tenderness on SSC 2, which have been fine-mapped to the calpastatin locus. The objectives of this study were to identify the sequence variation in calpastatin that likely affects tenderness in commercial-level pig populations and to develop definitive DNA markers that are predictive of pork tenderness for use in marker-assisted selection programs. Read More

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September 2011

Revealing genetic relationships between compounds affecting boar taint and reproduction in pigs.

J Anim Sci 2011 Mar;89(3):680-92

NORSVIN (The Norwegian Pig Breeders Association), PO Box 504, 2304 Hamar, Norway.

Boar taint is characterized by an unpleasant taste or odor in intact male pigs and is primarily attributed to increased concentrations of androstenone and skatole and to a lesser extent by increased indole. The boar taint compounds skatole and indole are produced by gut bacteria, metabolized in the liver, and stored in the fat tissue. Androstenone, on the other hand, is synthesized in the testis along with testosterone and estrogens, which are known to be important factors affecting fertility. Read More

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Complete resequencing of 40 genomes reveals domestication events and genes in silkworm (Bombyx).

Science 2009 Oct 27;326(5951):433-6. Epub 2009 Aug 27.

Key Sericultural Laboratory of Agricultural Ministry, College of Biotechnology, Southwest University, Chongqing 400715, China.

A single-base pair resolution silkworm genetic variation map was constructed from 40 domesticated and wild silkworms, each sequenced to approximately threefold coverage, representing 99.88% of the genome. We identified ~16 million single-nucleotide polymorphisms, many indels, and structural variations. Read More

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October 2009

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

Eur J Hum Genet 2009 Dec 17;17(12):1606-14. Epub 2009 Jun 17.

Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, University of Western Australia, Perth, Australia.

Hereditary Motor and Sensory Neuropathy -- Russe (HMSNR) is a severe autosomal recessive disorder, identified in the Gypsy population. Our previous studies mapped the gene to 10q22-q23 and refined the gene region to approximately 70 kb. Here we report the comprehensive sequencing analysis and fine mapping of this region, reducing it to approximately 26 kb of fully characterised sequence spanning the upstream exons of Hexokinase 1 (HK1). Read More

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December 2009

PDE8A genetic variation, polycystic ovary syndrome and androgen levels in women.

Mol Hum Reprod 2009 Aug 29;15(8):459-69. Epub 2009 May 29.

Department of Obstetrics and Gynecology, Virginia Commonwealth University, School of Medicine, Richmond, VA 23298, USA.

Polycystic ovary syndrome (PCOS) is characterized by excessive theca cell androgen secretion, dependent upon LH, which acts through the intermediacy of 3',5'-cyclic adenosine monophosphate (cAMP). cAMP signaling pathways are controlled through regulation of its synthesis by adenylyl cyclases, and cAMP degradation by phosphodiesterases (PDEs). PDE8A, a high-affinity cAMP-specific PDE is expressed in the ovary and testis. Read More

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Genome-wide expression of azoospermia testes demonstrates a specific profile and implicates ART3 in genetic susceptibility.

PLoS Genet 2008 Feb;4(2):e26

Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

Infertility affects about one in six couples attempting pregnancy, with the man responsible in approximately half of the cases. Because the pathophysiology underlying azoospermia is not elucidated, most male infertility is diagnosed as idiopathic. Genome-wide gene expression analyses with microarray on testis specimens from 47 non-obstructive azoospermia (NOA) and 11 obstructive azoospermia (OA) patients were performed, and 2,611 transcripts that preferentially included genes relevant to gametogenesis and reproduction according to Gene Ontology classification were found to be differentially expressed. Read More

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February 2008

Recombination rates of genes expressed in human tissues.

Hum Mol Genet 2008 Feb 13;17(4):577-86. Epub 2007 Nov 13.

SNP Research Center, RIKEN, 1-7-22 Suehiro, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.

High-resolution recombination rates have recently been revealed in the human genome, and considerable variation in patterns of recombination rates has been found along the chromosomes. Although the associations between this variation and genomic sequence features, such as genic regions, provide information on haplotype diversity and natural selection in these regions, the associations are not well understood. Here, we performed microarray experiments to identify genes specifically expressed in human tissues and investigated tendencies of recombination rates within tissue-specific genes. Read More

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February 2008

Association of testis derived transcript gene variants and prostate cancer risk.

J Urol 2007 Mar;177(3):894-8

Department of Epidemiology and Biostatistics, and Institute for Human Genetics, University of California, San Francisco, San Francisco, California 94143-0794, USA.

Purpose: The testis derived transcript gene has been suggested as a tumor suppressor gene for prostate cancer at 7q31. To investigate this concept we evaluated the effects of 7 tagging single nucleotide polymorphisms that comprehensively captured the common genetic variants in TES on aggressive prostate cancer in a case-control study.

Materials And Methods: A total of 506 cases diagnosed with aggressive prostate cancer, and an equal number of age, institute and ethnicity matched controls, were recruited from the major medical institutions in Cleveland, Ohio. Read More

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