1,349 results match your criteria chromosome walking


Delayed motor learning in a 16p11.2 deletion mouse model of autism is rescued by locus coeruleus activation.

Nat Neurosci 2021 Mar 22. Epub 2021 Mar 22.

Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Children with autism spectrum disorder often exhibit delays in achieving motor developmental milestones such as crawling, walking and speech articulation. However, little is known about the neural mechanisms underlying motor-related deficits. Here, we reveal that mice with a syntenic deletion of the chromosome 16p11. Read More

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Common genetic signatures of Alzheimer's disease in Down Syndrome.

F1000Res 2020 5;9:1299. Epub 2020 Nov 5.

BioScience Project, PO Box 352, Wakefield, MA, 01880, USA.

People with Down Syndrome (DS) are born with an extra copy of Chromosome (Chr) 21 and many of these individuals develop Alzheimer's Disease (AD) when they age. This is due at least in part to the extra copy of the gene located on Chr 21. By 40 years, most people with DS have amyloid plaques which disrupt brain cell function and increase their risk for AD. Read More

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November 2020

Map and sequence-based chromosome walking towards cloning of the male fertility restoration gene Rf5 linked to R in sunflower.

Sci Rep 2021 Jan 12;11(1):777. Epub 2021 Jan 12.

USDA-Agricultural Research Service, Edward T. Schafer Agricultural Research Center, 1616 Albrecht Blvd. N, Fargo, ND, 58102-2765, USA.

The nuclear fertility restorer gene Rf5 in HA-R9, originating from the wild sunflower species Helianthus annuus, is able to restore the widely used PET1 cytoplasmic male sterility in sunflowers. Previous mapping placed Rf5 at an interval of 5.8 cM on sunflower chromosome 13, distal to a rust resistance gene R at a 1. Read More

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January 2021

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia.

Case Rep Genet 2020 9;2020:6630300. Epub 2020 Dec 9.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

Introduction: Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000-100,000 live births. This condition predominantly affects the nervous and immune systems. It is characterized by progressive ataxia beginning from early childhood. Read More

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December 2020

High-Density Mapping and Candidate Gene Analysis of and in Sunflower by Whole-Genome Resequencing.

Int J Mol Sci 2020 Dec 16;21(24). Epub 2020 Dec 16.

USDA-Agricultural Research Service, Edward T. Schafer Agricultural Research Center, Fargo, ND 58102-2765, USA.

Downy mildew (DM) is one of the severe biotic threats to sunflower production worldwide. The inciting pathogen, could overwinter in the field for years, creating a persistent threat to sunflower. The dominant genes and conferring resistance to known DM races have been previously mapped to 1. Read More

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December 2020

Evaluation of PTEN Inhibitor Following Spinal Cord Injury on Recovery of Voiding Efficiency and Motor Function Observed by Regeneration in Spinal Cord.

Int Neurourol J 2020 Nov 23;24(Suppl 2):104-110. Epub 2020 Nov 23.

Department of Urology, Chungnam National University Sejong Hospital, Chungnam National University College of Medicine, Sejong, Korea.

Purpose: Neurogenic bladder (NB) associated with spinal cord injury (SCI) is a serious health problem. However, no effective treatment has been developed for SCI patients with NB. Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) inhibitors have been proposed as a promising option for inducing neural regeneration. Read More

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November 2020

Genetic mapping and candidate gene analysis for melon resistance to Phytophthora capsici.

Sci Rep 2020 11 24;10(1):20456. Epub 2020 Nov 24.

Zhengzhou Fruit Research Institute, Chinese Academy of Agricultural Sciences, Zhengzhou, 450009, Henan, China.

Phytophthora blight is one of the most serious diseases affecting melon (Cucumis melo) production. Due to the lack of highly resistant germplasms, the progress on disease-resistant research is slow. To understand the genetics of melon resistance to Phytophthora capsici, an F population containing 498 individuals was developed by crossing susceptible line E31 to highly resistant line ZQK9. Read More

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November 2020

Molecular structure and evolution mechanism of two populations of double minutes in human colorectal cancer cells.

J Cell Mol Med 2020 12 30;24(24):14205-14216. Epub 2020 Oct 30.

Laboratory of Medical Genetics, Harbin Medical University, Harbin, China.

Gene amplification chiefly manifests as homogeneously stained regions (HSRs) or double minutes (DMs) in cytogenetically and extrachromosomal DNA (ecDNA) in molecular genetics. Evidence suggests that gene amplification is becoming a hotspot for cancer research, which may be a new treatment strategy for cancer. DMs usually carry oncogenes or chemoresistant genes that are associated with cancer progression, occurrence and prognosis. Read More

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December 2020

A novel SRD5A2 mutation in an Iranian family with sex development disorder.

Andrologia 2021 Feb 25;53(1):e13847. Epub 2020 Oct 25.

Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Disorders of sex development (DSD) are different types of conditions that their accurate diagnosis by using conventional phenotypic and biochemical approaches is a challenging issue. Precise determination of DSD is critical due to the detection of possible life-threatening associated disorders. It may also assist parents in choosing the most suitable management for their affected child. Read More

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February 2021

Cloning and characterization of nicotinic acetylcholine receptor γ-like gene in adult transparent Pristella maxillaris.

Gene 2021 Feb 30;769:145193. Epub 2020 Sep 30.

National Demonstration Center for Experimental Fisheries Science Education, Shanghai Ocean University, Shanghai 201306, People's Republic of China; Shanghai Collaborative Innovation for Aquatic Animal Genetics and Breeding, Shanghai Ocean University, Shanghai 201306, People's Republic of China. Electronic address:

Nicotinic acetylcholine receptors (nAChRs) play an important role in regulating the development and function of nervous system. The muscle AChR is composed of four homologous glycoprotein subunits with a stoichiometry αβγδ in fetal or αβεδ in adult. But the mechanism controlling the transition of fetal AChR γ-subunit to adult AChR ε is still unknown. Read More

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February 2021

Construction of a dense genetic map of the Malus fusca fire blight resistant accession MAL0045 using tunable genotyping-by-sequencing SNPs and microsatellites.

Sci Rep 2020 10 1;10(1):16358. Epub 2020 Oct 1.

Julius Kühn Institute (JKI) - Federal Research Centre for Cultivated Plants, Institute for Breeding Research on Fruit Crops, Pillnitzer Platz 3a, 01326, Dresden, Germany.

Although, the Pacific crabapple, Malus fusca, is a hardy and disease resistant species, studies relating to the genetics of its unique traits are very limited partly due to the lack of a genetic map of this interesting wild apple. An accession of M. fusca (MAL0045) of Julius Kühn-Institut collection in Germany is highly resistant to fire blight disease, incited by different strains of the causative pathogen-Erwinia amylovora. Read More

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October 2020

Development of signature-tagged mutagenesis in Riemerella anatipestifer to identify genes essential for survival and pathogenesis.

Vet Microbiol 2020 Nov 19;250:108857. Epub 2020 Sep 19.

Shanghai Veterinary Research Institute, the Chinese Academy of Agricultural Sciences, 518 Ziyue Road, Shanghai 200241, China. Electronic address:

Riemerella anatipestifer causes epizootic infectious disease in ducks, geese, turkeys and other birds, and serious economic losses especially to the duck industry. However, little is known about the molecular basis of its pathogenesis. In this study, signature-tagged transposon mutagenesis based on Tn4351 was developed in R. Read More

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November 2020

A novel homozygous KY variant causing a complex neurological disorder.

Eur J Med Genet 2020 Nov 18;63(11):104031. Epub 2020 Aug 18.

School of Biological Sciences, University of the Punjab, Lahore, Pakistan. Electronic address:

Mutations in the gene kyphoscoliosis peptidase (KY) are known to cause myofibrillar myopathy-7 and hereditary spastic paraplegia. We investigated the genetic cause of a complex neurological phenotype in a consanguineous Pakistani family with four affected members, manifesting lower limb spasticity and weakness, toe walking, pes equinovarus, and a speech disorder. Genome-wide linkage analysis with microsatellite markers delineated chromosome 3q22. Read More

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November 2020

Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).

BMC Neurol 2020 May 25;20(1):207. Epub 2020 May 25.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, P.O. Box 3354, Riyadh, 11211, Kingdom of Saudi Arabia.

Background: Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Salih ataxia, SCAR15, OMIM # 615705). The present report describes the clinical, neurophysiologic, neuroimaging, and genetic findings in a second unrelated Saudi family with two affected children harboring identical homozygous frameshift mutation in the gene. It also explores and documents an ancient founder cerebellar ataxia mutation in the Arabian Peninsula. Read More

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Identification of genomic insertion and flanking sequences of the transgenic drought-tolerant maize line "SbSNAC1-382" using the single-molecule real-time (SMRT) sequencing method.

PLoS One 2020 10;15(4):e0226455. Epub 2020 Apr 10.

Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing, China.

Safety assessment of genetically modified (GM) crops is crucial at the product-development phase before GM crops are placed on the market. Determining characteristics of sequences flanking exogenous insertion sequences is essential for the safety assessment and marketing of transgenic crops. In this study, we used genome walking and whole-genome sequencing (WGS) to identify the flanking sequence characteristics of the SbSNAC1 transgenic drought-tolerant maize line "SbSNAC1-382", but both of the two methods failed. Read More

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Mapping and DNA sequence characterisation of the Rysto locus conferring extreme virus resistance to potato cultivar 'White Lady'.

PLoS One 2020 31;15(3):e0224534. Epub 2020 Mar 31.

NARIC Agricultural Biotechnology Institute, Gödöllő, Hungary.

Virus resistance genes carried by wild plant species are valuable resources for plant breeding. The Rysto gene, conferring a broad spectrum of durable resistance, originated from Solanum stoloniferum and was introgressed into several commercial potato cultivars, including 'White Lady', by classical breeding. Rysto was mapped to chromosome XII in potato, and markers used for marker-assisted selection in breeding programmes were identified. Read More

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Enhancement of bleomycin production in Streptomyces verticillus through global metabolic regulation of N-acetylglucosamine and assisted metabolic profiling analysis.

Microb Cell Fact 2020 Feb 13;19(1):32. Epub 2020 Feb 13.

Key Laboratory of Systems Bioengineering (Ministry of Education), Tianjin University, Tianjin, 300072, People's Republic of China.

Background: Bleomycin is a broad-spectrum glycopeptide antitumor antibiotic produced by Streptomyces verticillus. Clinically, the mixture of bleomycin A2 and bleomycin B2 is widely used in combination with other drugs for the treatment of various cancers. As a secondary metabolite, the biosynthesis of bleomycin is precisely controlled by the complex extra-/intracellular regulation mechanisms, it is imperative to investigate the global metabolic and regulatory system involved in bleomycin biosynthesis for increasing bleomycin production. Read More

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February 2020

Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome.

Genes (Basel) 2020 01 10;11(1). Epub 2020 Jan 10.

Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada.

In the domestic horse; failure of normal masculinization and virilization due to deficiency of androgenic action leads to a specific disorder of sexual development known as equine androgen insensitivity syndrome (AIS). Affected individuals appear to demonstrate an incoherency between their genetic sex and sexual phenotype; i.e. Read More

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January 2020

A Single Nucleotide Deletion in an ABC Transporter Gene Leads to a Dwarf Phenotype in Watermelon.

Front Plant Sci 2019 13;10:1399. Epub 2019 Nov 13.

College of Horticulture, Henan Agricultural University, Zhengzhou, China.

Dwarf habit is one of the most important traits in crop plant architecture, as it can increase plant density and improved land utilization, especially for protected cultivation, as well as increasing lodging resistance and economic yield. At least four dwarf genes have been identified in watermelon, but none of them has been cloned. In the current study, the gene was primary-mapped onto watermelon chromosome 9 by next-generation sequencing-aided bulked-segregant analysis (BSA-seq) of F plants derived from a cross between a normal-height line, WT4, and a dwarf line, WM102, in watermelon. Read More

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November 2019

Monozygotic Twins Discordant for Kennedy Disease: A Case Report.

Authors:
Cyprian Popescu

J Clin Neuromuscul Dis 2019 Dec;21(2):112-116

Victor Pauchet Clinics, Amiens, France.

Spinal and bulbar muscular atrophy or Kennedy disease (KD) is an X-linked recessive disorder caused by a pathogenic CAG expansion in the first exon of the androgen receptor. Proximal muscle atrophy, weakness, contraction fasciculations, bulbar involvement, and sensory disturbances are part of the clinical picture of KD. We report the unusual genetic and phenotypic expression in 2 monozygotic twins. Read More

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December 2019

[Genetic analysis of a pedigree affected with X-linked adrenoleukodystrophy].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Nov;36(11):1104-1106

Department of Neurology, the First People's Hospital of Wuyi County, Wuyi, Zhejiang 321200, China.

Objective: To explore the genetic basis for a pedigree affected with X-linked adrenoleukodystrophy presenting as spastic paraplegia of the lower limbs.

Methods: Genomic DNA was extracted from peripheral blood samples of the patient and his mother. Potential variant was detected with a panel for genes associated with spastic paraplegia. Read More

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November 2019

Quantitative gait assessment in children with 16p11.2 syndrome.

J Neurodev Disord 2019 10 27;11(1):26. Epub 2019 Oct 27.

Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, Presbyterian Hospital, 622 W 168th Street, PH18-331, New York, NY, 10032, USA.

Background: Neurodevelopmental disorders such as 16p11.2 syndrome are frequently associated with motor impairments including locomotion. The lack of precise measures of gait, combined with the challenges inherent in studying children with neurodevelopmental disorders, hinders quantitative motor assessments. Read More

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October 2019

Transposition of a non-autonomous DNA transposon in the gene coding for a bHLH transcription factor results in a white bulb color of onions (Allium cepa L.).

Theor Appl Genet 2020 Jan 22;133(1):317-328. Epub 2019 Oct 22.

Department of Horticulture, Biotechnology Research Institute, Chonnam National University, Gwangju, 500-757, Korea.

Key Message: A DNA transposon was found in the gene encoding a bHLH transcription factor. Genotypes of the marker tagging this DNA transposon perfectly co-segregated with color phenotypes in large F populations A combined approach of bulked segregant analysis and RNA-Seq was used to isolate causal gene for C locus controlling white bulb color in onions (Allium cepa L.). Read More

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January 2020

Molecular dissection of resistance gene cluster and candidate gene identification of Pl and Pl in sunflower by whole-genome resequencing.

Sci Rep 2019 10 18;9(1):14974. Epub 2019 Oct 18.

USDA-Agricultural Research Service, Edward T. Schafer Agricultural Research Center, Fargo, ND, 58102-2765, USA.

Sunflower (Helianthus annuus L.) production is challenged by different biotic and abiotic stresses, among which downy mildew (DM) is a severe biotic stress that is detrimental to sunflower yield and quality in many sunflower-growing regions worldwide. Resistance against its infestation in sunflower is commonly regulated by single dominant genes. Read More

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October 2019

A modified high-efficiency thermal asymmetric interlaced PCR method for amplifying long unknown flanking sequences.

J Genet Genomics 2019 07 23;46(7):363-366. Epub 2019 Jun 23.

State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, South China Agricultural University, Guangzhou, 510642, China; Key Laboratory of Plant Functional Genomics and Biotechnology of Guangdong Provincial Higher Education Institutions, South China Agricultural University, Guangzhou, 510642, China; College of Life Sciences, South China Agricultural University, Guangzhou, 510642, China. Electronic address:

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Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study.

J Pediatr Endocrinol Metab 2019 Aug;32(8):879-884

Service of Clinical Genetics, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autónoma de Barcelona, Sabadell, Barcelona, Spain.

Background There is little evidence of the effects of early treatment with growth hormone (GH) in infants with Prader-Willi syndrome (PWS). A prospective study was conducted to assess the safety of GH therapy in infants younger than 2 years of age with PWS. Methods A total of 14 patients with PWS started treatment with GH under the age of 2 years and were followed over a 2-year period. Read More

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SRAssembler: Selective Recursive local Assembly of homologous genomic regions.

BMC Bioinformatics 2019 Jul 2;20(1):371. Epub 2019 Jul 2.

Department of Biology, Indiana University, Bloomington, 47405, Indiana, USA.

Background: The falling cost of next-generation sequencing technology has allowed deep sequencing across related species and of individuals within species. Whole genome assemblies from these data remain high time- and resource-consuming computational tasks, particularly if best solutions are sought using different assembly strategies and parameter sets. However, in many cases, the underlying research questions are not genome-wide but rather target specific genes or sets of genes. Read More

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The complete genomic sequence of Streptomyces spectabilis NRRL-2792 and identification of secondary metabolite biosynthetic gene clusters.

J Ind Microbiol Biotechnol 2019 Aug 13;46(8):1217-1223. Epub 2019 Jun 13.

Bioprocess Development Group, Pfizer, 7000 Portage Rd, Kalamazoo, 49001, USA.

This is the first report of a fully annotated genomic sequence of Streptomyces spectabilis NRRL-2792, isolated and identified by The Upjohn Company in 1961. The genome was assembled into a single scaffold for annotation and analysis. The chromosome is linear, 9. Read More

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MinION sequencing technology to characterize unauthorized GM petunia plants circulating on the European Union market.

Sci Rep 2019 05 9;9(1):7141. Epub 2019 May 9.

Sciensano, Transversal activities in Applied Genomics (TAG), J. Wytsmanstraat 14, 1050, Brussels, Belgium.

In order to characterize unauthorized genetically modified petunia, an integrated strategy has been applied here on several suspected petunia samples from the European market. More precisely, DNA fragments of interest were produced by DNA walking anchored on key targets, earlier detected by real-time PCR screening analysis, to be subsequently sequenced using the MinION platform from Oxford Nanopore Technologies. This way, the presence of genetically modified petunia was demonstrated via the characterization of their transgene flanking regions as well as unnatural associations of elements from their transgenic cassette. Read More

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