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https://www.readbyqxmd.com/read/28210813/a-comprehensive-y-str-portrait-of-yousafzai-s-population
#1
Sadia Tabassum, Muhammad Ilyas, Inam Ullah, Muhammad Israr, Habib Ahmad
In the current study, 17 Y-Chromosomal short tandem repeats (Y-STRs) included in theAmpFlSTR Y-Filer amplification kit (Applied Biosystems, Foster City, USA) were investigated in 146 unrelated Yousafzai males residing in the Khyber Pakhtunkhwa Province of Pakistan. A total of 94 (89.52%) unique haplotypes were observed. Discrimination capacity was 71.92%. Haplotype diversity ranged from 0.354 (DYS456) to 0.663 (DYS458). Both Rst pairwise analysis and multidimensional scaling plot showed that the genetic structure of the Yousafzais is significantly different from neighbouring populations...
February 16, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28203345/sweet-s-syndrome-associated-with-clonal-hematopoiesis-of-indeterminate-potential-responsive-to-5-azacitidine
#2
REVIEW
George Yaghmour, Eric Wiedower, Bassam Yaghmour, Sara Nunnery, Eric Duncavage, Mike G Martin
Sweet's syndrome (SS) is a rare condition characterized by the abrupt appearance of painful skin lesions due to neutrophilic dermal infiltration. Hematologic neoplasms, particularly acute myeloid leukemia (AML) and myelodysplastic syndromes (MDSs), have been commonly reported in association with SS. Clonal hematopoiesis of indeterminate potential (CHIP) is an emerging entity that is a precursor state to myeloid neoplasms. CHIP has not been previously associated with SS. We report the case of a 71-year-old man who presented with recurrent, painful edematous and erythematous papules and nodules for 18 months despite treatment with corticosteroids...
February 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/28190795/progress-in-understanding-the-molecular-functions-of-ddx3y-dby-in-male-germ-cell-development-and-maintenance
#3
Alexei A Kotov, Oxana M Olenkina, Baira K Godneeva, Vladimir E Adashev, Ludmila V Olenina
Human DDX3 paralogs are housed on the X chromosome (DDX3X) as well as in the non- recombining region Yq11 of the Y-chromosome (DDX3Y or DBY). A gene encoding RNA helicase DDX3Y is located in the AZoospermia Factor a (AZFa) region of the Y-chromosome and expressed only in male germ cells. Deletions encompassing the DDX3Y gene lead to azoospermia and cause Sertoli Cell-Only Syndrome (SCOS) in humans. SCOS is characterized by a complete germ cell lack with preservation of somatic Sertoli cells. This review summarizes current advances in the study of DDX3Y functions in maintenance and development of early male germ cells...
February 12, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28186606/-analysis-of-genetic-etiology-of-a-female-with-47-xxy-syndrome
#4
Hongying Li, Kaihui Zhang, Min Gao, Haiyan Zhang, Ying Wang, Yufeng Zhang, Yi Liu, Zhongtao Gai
OBJECTIVE: To explore the genetic cause of a female case with intellectual development disorder. METHODS: G banding karyotyping was performed for the patient. Following DNA extraction, the coding sequence of SRY gene was amplified with PCR and subjected to Sanger sequencing. qPCR was used to detect the copy numbers of the SRY gene. RESULTS: The karyotype of the patient was 47,XXY. PCR and qPCR analyses of the SRY gene showed a large deletion with null copy number...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28183871/y-chromosome-polymorphisms-may-contribute-to-an-increased-risk-of-male-induced-unexplained-recurrent-miscarriage
#5
Yan Wang, Gang Li, Man-Zhen Zuo, Hai-Rong Li, Jun-Hua Fang, Dan-Dan Quan, Lu Huang, Ping-Ping Peng
Objective: This study aims to explore the relationship between the Y chromosome polymorphisms (1qh+, inv(9), 9qh+, 16qh+, group D/G, Yqh- and Yqh+) and the risk of unexplained recurrent miscarriage (URM).Methods: A total of 507 couples with URM were recruited as case group and 465 healthy couples as control group. The Y chromosome polymorphisms of the male individuals were analyzed with the G-banding technique, and the results of the chromosome G-banding analysis were determined using the International Naming Standards of Human Genetics (ISCN)...
February 9, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28161998/paternal-genetic-structure-in-contemporary-mennonite-communities-from-the-american-midwest
#6
Kristine G Beaty, M J Mosher, Michael H Crawford, Phillip Melton
Over the last 35 years, researchers from the Laboratory of Biological Anthropology at the University of Kansas have been working with Mennonite communities to better understand evolutionary patterns of fission-fusion in relationship to their genetic history and population structure. In this study, short tandem repeat (STR) markers from the nonrecombining region of the Y chromosome (NRY) provided increased resolution of the molecular population structure for these groups. NRY is known to be informative for determining paternal genetic ancestral patterns in recently derived human populations...
April 2016: Human Biology
https://www.readbyqxmd.com/read/28158897/sex-specific-genetic-diversity-is-shaped-by-cultural-factors-in-inner-asian-human-populations
#7
Nina Marchi, Tatyana Hegay, Philippe Mennecier, Myriam Georges, Romain Laurent, Mark Whitten, Philipp Endicott, Almaz Aldashev, Choduraa Dorzhu, Firuza Nasyrova, Boris Chichlo, Laure Ségurel, Evelyne Heyer
OBJECTIVES: Sex-specific genetic structures have been previously documented worldwide in humans, even though causal factors have not always clearly been identified. In this study, we investigated the impact of ethnicity, geography and social organization on the sex-specific genetic structure in Inner Asia. Furthermore, we explored the process of ethnogenesis in multiple ethnic groups. METHODS: We sampled DNA in Central and Northern Asia from 39 populations of Indo-Iranian and Turkic-Mongolic native speakers...
February 3, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28152522/generation-and-characteristics-of-human-sertoli-cell-line-immortalized-by-overexpression-of-human-telomerase
#8
Liping Wen, Qingqing Yuan, Min Sun, Minghui Niu, Hong Wang, Hongyong Fu, Fan Zhou, Chencheng Yao, Xiaobo Wang, Zheng Li, Zuping He
Sertoli cells are required for normal spermatogenesis and they can be reprogrammed to other types of functional cells. However, the number of primary Sertoli cells is rare and human Sertoli cell line is unavailable. In this study, we have for the first time reported a stable human Sertoli cell line, namely hS1 cells, by overexpression of human telomerase. The hS1 cells expressed a number of hallmarks for human Sertoli cells, including SOX9, WT1, GDNF, SCF, BMP4, BMP6, GATA4, and VIM, and they were negative for 3β-HSD, SMA, and VASA...
February 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28139647/convergent-recombination-suppression-suggests-role-of-sexual-selection-in-guppy-sex-chromosome-formation
#9
Alison E Wright, Iulia Darolti, Natasha I Bloch, Vicencio Oostra, Ben Sandkam, Severine D Buechel, Niclas Kolm, Felix Breden, Beatriz Vicoso, Judith E Mank
Sex chromosomes evolve once recombination is halted between a homologous pair of chromosomes. The dominant model of sex chromosome evolution posits that recombination is suppressed between emerging X and Y chromosomes in order to resolve sexual conflict. Here we test this model using whole genome and transcriptome resequencing data in the guppy, a model for sexual selection with many Y-linked colour traits. We show that although the nascent Y chromosome encompasses nearly half of the linkage group, there has been no perceptible degradation of Y chromosome gene content or activity...
January 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/28138773/revisiting-the-male-genetic-landscape-of-china-a-multi-center-study-of-almost-38-000-y-str-haplotypes
#10
REVIEW
Michael Nothnagel, Guangyao Fan, Fei Guo, Yongfeng He, Yiping Hou, Shengping Hu, Jiang Huang, Xianhua Jiang, Wook Kim, Kicheol Kim, Chengtao Li, Hui Li, Liming Li, Shilin Li, Zhao Li, Weibo Liang, Chao Liu, Di Lu, Haibo Luo, Shengjie Nie, Meisen Shi, Hongyu Sun, Jianpin Tang, Lei Wang, Chuan-Chao Wang, Dan Wang, Shao-Qing Wen, Hongyan Wu, Weiwei Wu, Jiaxin Xing, Jiangwei Yan, Shi Yan, Hongbing Yao, Yi Ye, Libing Yun, Zhaoshu Zeng, Lagabaiyila Zha, Suhua Zhang, Xiufen Zheng, Sascha Willuweit, Lutz Roewer
China has repeatedly been the subject of genetic studies to elucidate its prehistoric and historic demography. While some studies reported a genetic distinction between Northern and Southern Han Chinese, others showed a more clinal picture of small differences within China. Here, we investigated the distribution of Y chromosome variation along administrative as well as ethnic divisions in the mainland territory of the People's Republic of China, including 28 administrative regions and 19 recognized Chinese nationalities, to assess the impact of recent demographic processes...
January 30, 2017: Human Genetics
https://www.readbyqxmd.com/read/28138757/genetic-variations-of-15-autosomal-and-17-y-str-markers-in-sindhi-population-of-pakistan
#11
Rukhsana Perveen, Ahmad Ali Shahid, Muhammad Shafique, Muhammad Shahzad, Tayyab Husnain
This study comprises genetic characterization of 15 autosomal and 17 Y-chromosomal STR loci in 103 unrelated male inhabitants of the Sindhi population to establish its lineage and parameters of forensic interest. The examined autosomal STRs revealed high combined power of discrimination, combined power of exclusion, and the combined matching probability as 0.99999999999999999042580, 0.9999977141, and 9.5742 × 10(-18), respectively. A total of 89 unique haplotypes were obtained, of which 84 were observed once with a haplotype diversity value of 0...
January 30, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28137478/gender-balance-in-patients-with-systemic-lupus-erythrematosus
#12
REVIEW
Audrey A Margery-Muir, Christine Bundell, Delia Nelson, David M Groth, John D Wetherall
Factors are reviewed that contribute to the contemporary view of a disproportionate prevalence and incidence SLE in females. Recent studies on the epidemiology of SLE report that global Incidences and prevalences of SLE for Caucasian and Black populations are of the order of 5.5 and 13.1 per year and 81 and 212 per 100,000 persons respectively. Both parameters displayed age dependent variation over a 90-year lifespan. The female to male (F:M) incidence of SLE varied with age, being approximately 1 during the first decade of life, followed by a sharp increase to 9 during the 4th decade, thence declining in subsequent decades before an increase during the 7th or 8th decades...
January 27, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28137251/autism-spectrum-disorder-associated-with-49-xyyyy-case-report-and-review-of-the-literature
#13
Caroline Demily, Alice Poisson, Elodie Peyroux, Valérie Gatellier, Alain Nicolas, Caroline Rigard, Caroline Schluth-Bolard, Damien Sanlaville, Massimiliano Rossi
BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome...
January 31, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28135246/avian-w-and-mammalian-y-chromosomes-convergently-retained-dosage-sensitive-regulators
#14
Daniel W Bellott, Helen Skaletsky, Ting-Jan Cho, Laura Brown, Devin Locke, Nancy Chen, Svetlana Galkina, Tatyana Pyntikova, Natalia Koutseva, Tina Graves, Colin Kremitzki, Wesley C Warren, Andrew G Clark, Elena Gaginskaya, Richard K Wilson, David C Page
After birds diverged from mammals, different ancestral autosomes evolved into sex chromosomes in each lineage. In birds, females are ZW and males are ZZ, but in mammals females are XX and males are XY. We sequenced the chicken W chromosome, compared its gene content with our reconstruction of the ancestral autosomes, and followed the evolutionary trajectory of ancestral W-linked genes across birds. Avian W chromosomes evolved in parallel with mammalian Y chromosomes, preserving ancestral genes through selection to maintain the dosage of broadly expressed regulators of key cellular processes...
January 30, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28128398/mitochondrial-dna-insertions-in-the-nuclear-capra-hircus-genome
#15
F Y Ning, J Fu, Z H Du
Nuclear mitochondrial pseudogenes (numts), originating from mtDNA insertions into the nuclear genome, have been detected in many species. However, the distribution of numts in the newly published nuclear genome of domestic goat (Capra hircus) has not yet been explored. We used the entire goat mtDNA sequence and nuclear genome, to identify 118 numts using BLAST. Of these, 79 were able to map sequences to the genome. Further analysis showed that the size of the numts ranged from 318 to 9608 bp, and the homologous identity between numts and their respective corresponding mtDNA fragments varied between 65 and 99%...
January 23, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28127629/genetic-polymorphisms-of-24-y-str-loci-in-hani-ethnic-minority-from-yunnan-province-southwest-china
#16
Liping Hu, Tao Gu, Xiaodong Fan, Xiaokun Yuan, Min Rao, Jing Bo Pang, Aiting Nie, Lei Du, Xiufeng Zhang, Shengjie Nie
In the present study, 24 Y-chromosomal short tandem repeat (Y-STR) loci were analyzed in 250 unrelated Hani male individuals from Lvchun county, Honghe Hani and Yi Autonomous Prefecture, Yunnan Province, Southwest China. The gene diversity of the 24 Y-STR loci in the studied Hani group ranged from 0.2683 (DYS437) to 0.8837 (DYS447). According to haplotypic analysis of the 24 Y-STR loci, 204 different haplotypes were obtained, 174 of which were unique. The haplotype diversity and discrimination capacity in Hani group were 0...
January 27, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28126691/performance-and-concordance-of-the-forenseq%C3%A2-system-for-autosomal-and-y-chromosome-short-tandem-repeat-sequencing-of-reference-type-specimens
#17
Rebecca S Just, Lilliana I Moreno, Jill B Smerick, Jodi A Irwin
Though the utility of next-generation sequencing (NGS) technologies for forensic short tandem repeat (STR) typing has been evident for several years, commercially available assays and software solutions developed specifically to meet forensic needs have only recently become available. One of these, the ForenSeq™ DNA Signature Prep Kit (Illumina, Inc.) sequences 27 autosomal STR (aSTR) and 24 Y chromosome STR (Y-STR) loci (concurrent with additional nuclear markers) per multiplexed sample, with automated secondary and tertiary analyses of the data accomplished via the associated ForenSeq™ Universal Analysis Software (UAS)...
January 9, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28124482/nucleotide-composition-and-codon-usage-bias-of-sry-gene
#18
M N Choudhury, A Uddin, S Chakraborty
The SRY gene is present within the sex-determining region of the Y chromosome which is responsible for maleness in mammals. The nonuniform usage of synonymous codons in the mRNA transcript for encoding a particular amino acid is the codon usage bias (CUB). Analysis of codon usage pattern is important to understand the genetic and molecular organisation of a gene. It also helps in heterologous gene expression, design of primer and synthetic gene. However, the analysis of codon usage bias of SRY gene was not yet studied...
January 26, 2017: Andrologia
https://www.readbyqxmd.com/read/28120839/signatures-of-human-european-palaeolithic-expansion-shown-by-resequencing-of-non-recombining-x-chromosome-segments
#19
Pierpaolo Maisano Delser, Rita Neumann, Stéphane Ballereau, Pille Hallast, Chiara Batini, Daniel Zadik, Mark A Jobling
Human genetic diversity in Europe has been extensively studied using uniparentally inherited sequences (mitochondrial DNA (mtDNA) and the Y chromosome), which reveal very different patterns indicating sex-specific demographic histories. The X chromosome, haploid in males and inherited twice as often from mothers as from fathers, could provide insights into past female behaviours, but has not been extensively investigated. Here, we use HapMap single-nucleotide polymorphism data to identify genome-wide segments of the X chromosome in which recombination is historically absent and mutations are likely to be the only source of genetic variation, referring to these as phylogeographically informative haplotypes on autosomes and X chromosome (PHAXs)...
January 25, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28117316/anomalous-separation-of-small-y-chromosomal-dna-fragments-on-microchip-electrophoresis
#20
Mohammad Jabasini, Ashraf Ewis, Youichi Sato, Yutaka Nakahori, Yoshinobu Baba
We investigated an anomalous DNA separation where two DNA fragments from the human Y-chromosome sY638 (64 bp) and sY592 (65 bp), with only one base pair difference, were separated. This result is abnormal since in a previous study, we found that 5 bp was the minimum difference between two DNA fragments that the microchip electrophoresis system can separate. The formation of a mini-loop in the structure of the DNA fragment of sY638 (64 bp) was strongly expected to be the reason. To investigate this, we synthesized three modified DNA fragments for sY638 (64 bp), and the modifications were in two expected locations for possible mini-loop formation...
May 26, 2016: Scientia Pharmaceutica
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