keyword
MENU ▼
Read by QxMD icon Read
search

Y-chromosome

keyword
https://www.readbyqxmd.com/read/29770608/north-african-mediterranean-hla-genetic-contribution-in-a-population-of-the-kidney-transplant-waiting-list-patients-of-canary-origin-gran-canaria
#1
J Martinez-Laso, A Ramirez-Puga, E Rivas-García, E Fernández-Tagarro, I Auyanet-Saavedra, R Guerra-Rodríguez, N Díaz-Novo, C García-Cantón
The peopling of the Canary Islands has been widely debated. The mitochondrial DNA and Y chromosome data support the idea of a Berber genetic origin coming from the North of Africa (maternal) and a later contribution of the Spanish invaders (paternal) . The frequencies of the HLA class II alleles from the Tenerife Island (another Canary Island) have previously been published, postulating a Berber and Atlantic/Iberian contributions to the current population. The HLA class I and class II allele frequencies, haplotype frequencies and phylogenetic comparisons were performed in 215 unrelated individuals from Gran Canaria Island (belonging to the kidney transplant waiting list), with at least three generations of ancestors from Canary Islands, in order to study the different ethnical HLA contributions to the genetic background of the Canary Islanders...
May 17, 2018: HLA
https://www.readbyqxmd.com/read/29769284/dynamic-copy-number-evolution-of-x-and-y-linked-ampliconic-genes-in-human-populations
#2
Elise A Lucotte, Laurits Skov, Jacob Malte Jensen, Moisès Coll Macià, Kasper Munch, Mikkel H Schierup
Ampliconic genes are multicopy, in majority found on sex-chromosomes and enriched for testis-expressed genes. While ampliconic genes have been associated with the emergence of hybrid incompatibilities, we know little about their copy number distribution and their turnover in human populations. Here we explore the evolution of human X- and Y-linked ampliconic genes by investigating copy number variation (CNV) and coding variation between populations using the Simons Genome Diversity Project. We develop a method to assess CNVs using the read-depth on modified X and Y chromosome targets containing only one repetition of each ampliconic gene...
May 16, 2018: Genetics
https://www.readbyqxmd.com/read/29753233/associations-of-y-chromosomal-haplogroups-with-cardiometabolic-risk-factors-and-subclinical-vascular-measures-in-males-during-childhood-and-adolescence
#3
Linda M O'Keeffe, Laura D Howe, Abigail Fraser, Alun D Hughes, Kaitlin H Wade, Emma L Anderson, Debbie A Lawlor, A Mesut Erzurumluoglu, George Davey-Smith, Santiago Rodriguez, Evie Stergiakouli
BACKGROUND AND AIMS: Males have greater cardiometabolic risk than females, though the reasons for this are poorly understood. The aim of this study was to examine the association between common Y chromosomal haplogroups and cardiometabolic risk during early life. METHODS: In a British birth cohort, we examined the association of Y chromosomal haplogroups with trajectories of cardiometabolic risk factors from birth to 18 years and with carotid-femoral pulse wave velocity, carotid intima media thickness and left ventricular mass index at age 18...
April 25, 2018: Atherosclerosis
https://www.readbyqxmd.com/read/29752043/application-of-molecular-cytogenetic-techniques-to-characterize-the-aberrant-y-chromosome-arising-de-novo-in-a-male-fetus-with-mosaic-45-x-and-solve-the-discrepancy-between-karyotyping-chromosome-microarray-and-multiplex-ligation-dependent-probe-amplification
#4
Shin-Yu Lin, Chien-Nan Lee, Ai-Ying Peng, Ti-Jia Yuan, Dong-Jay Lee, Wen-Hsiang Lin, Gwo-Chin Ma, Ming Chen
We present a rare male fetus with karyotype of mosaic 45,X that comprises two types of aberrant Y chromosomes arising de novo (Yq12 deletion and isodicentric Yq11.22). Both types of the aberrant Y chromosomes lack the AZFc region which are expected to result in oligospermia but unaffected male external genitalia. Genetic analyses by karyotyping, chromosome microarray (CMA), and multiplex ligation-dependent probe amplification (MLPA) for the fetus revealed conflicting results. Additional molecular cytogenetics tools including fluorescence in situ hybridization (FISH) and multicolor banding (mBAND) were performed, which help resolving the discrepancy and delineated the composition of the aberrant Y chromosomes...
May 8, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/29751570/shared-and-species-specific-patterns-of-nascent-y-chromosome-evolution-in-two-guppy-species
#5
Jake Morris, Iulia Darolti, Natasha I Bloch, Alison E Wright, Judith E Mank
Sex chromosomes form once recombination is halted around the sex-determining locus between a homologous pair of chromosomes, resulting in a male-limited Y chromosome. We recently characterized the nascent sex chromosome system in the Trinidadian guppy ( Poecilia reticulata ). The guppy Y is one of the youngest animal sex chromosomes yet identified, and therefore offers a unique window into the early evolutionary forces shaping sex chromosome formation, particularly the rate of accumulation of repetitive elements and Y-specific sequence...
May 3, 2018: Genes
https://www.readbyqxmd.com/read/29749874/genital-mycoplasmas-and-ureaplasmas-in-cervicovaginal-self-collected-samples-of-reproductive-age-women-prevalence-and-risk-factors
#6
Jani Silva, Fátima Cerqueira, Ana Luísa Teixeira, Maria Clara Bicho, Rui Campainha, José Amorim, Rui Medeiros
The purpose of this study was to characterise the prevalence and risk factors associated with genital mycoplasmas ( Mycoplasma hominis [MH], M. genitalium [MG]) and ureaplasmas ( Ureaplasma urealyticum [UU], U. parvum [UP]) in Portuguese women of reproductive age. The cross-sectional study included 612 cervicovaginal self-collected samples from women aged 15-44 years, tested for MH, MG, UU, UP by polymerase chain reaction. Y chromosome (Yc) DNA was detected as a biomarker of recent unprotected sexual intercourse...
January 1, 2018: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/29748665/a-finely-resolved-phylogeny-of-y-chromosome-hg-j-illuminates-the-processes-of-phoenician-and-greek-colonizations-in-the-mediterranean
#7
Andrea Finocchio, Beniamino Trombetta, Francesco Messina, Eugenia D'Atanasio, Nejat Akar, Aphrodite Loutradis, Emmanuel I Michalodimitrakis, Fulvio Cruciani, Andrea Novelletto
In order to improve the phylogeography of the male-specific genetic traces of Greek and Phoenician colonizations on the Northern coasts of the Mediterranean, we performed a geographically structured sampling of seven subclades of haplogroup J in Turkey, Greece and Italy. We resequenced 4.4 Mb of Y-chromosome in 58 subjects, obtaining 1079 high quality variants. We did not find a preferential coalescence of Turkish samples to ancestral nodes, contradicting the simplistic idea of a dispersal and radiation of Hg J as a whole from the Middle East...
May 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29747566/analysis-of-the-canid-y-chromosome-phylogeny-using-short-read-sequencing-data-reveals-the-presence-of-distinct-haplogroups-among-neolithic-european-dogs
#8
Matthew T Oetjens, Axel Martin, Krishna R Veeramah, Jeffrey M Kidd
BACKGROUND: Most genetic analyses of ancient and modern dogs have focused on variation in the autosomes or on the mitochondria. Mitochondrial DNA is more easily obtained from ancient samples than nuclear DNA and mitochondrial analyses have revealed important insights into the evolutionary history of canids. Utilizing a recently published dog Y-chromosome reference, we analyzed Y-chromosome sequence across a diverse collection of canids and determined the Y haplogroup of three ancient European dogs...
May 10, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29744390/stage-1-registered-report-variation-in-neurodevelopmental-outcomes-in-children-with-sex-chromosome-trisomies-protocol-for-a-test-of-the-double-hit-hypothesis
#9
Dianne F Newbury, Nuala H Simpson, Paul A Thompson, Dorothy V M Bishop
Background : The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. Group averages, however, obscure a wide range of outcomes. Hypothesis: The 'double hit' hypothesis proposes that the adverse impact of the extra sex chromosome is amplified when genes that are expressed from the sex chromosomes interact with autosomal variants that usually have only mild effects. Neuroligin-4 genes are expressed from X and Y chromosomes; they play an important role in synaptic development and have been implicated in neurodevelopment...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29739989/haplotypic-polymorphisms-and-mutation-rate-estimates-of-22-y-chromosome-strs-in-the-northern-chinese-han-father-son-pairs
#10
Yaran Yang, Weini Wang, Feng Cheng, Man Chen, Tong Chen, Jing Zhao, Chong Chen, Yan Shi, Chen Li, Chuguang Chen, Yacheng Liu, Jiangwei Yan
Y chromosome Short tandem repeats (Y-STRs) analysis has been widely used in forensic identification, kinship testing, and population evolution. An accurate understanding of haplotype and mutation rate will benefit these applications. In this work, we analyzed 1123 male samples from Northern Chinese Han population which including 578 DNA-confirmed father-son pairs at 22 Y-STRs loci. A total of 537 haplotypes were observed and the overall haplotype diversity was calculated as 1.0000 ± 0.0001. Except that only two haplotypes were observed twice, all the rest of the 535 were unique...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29739732/inherited-deletion-of-1q-hyperparathyroidism-and-signs-of-y-chromosomal-influence-in-a-patient-with-turner-syndrome
#11
Alejandro F Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P Dehner, Katherine Semenkovich, Ana María Arbeláez
We report a detailed phenotypic, cytogenetic, and molecular characterization of a patient diagnosed prenatally with Turner syndrome (TS). In addition to having typical TS clinical characteristics such as a webbed neck, high arched palate, and coarctation of the aorta, the patient had features less frequently seen in TS, including recurrent parathyroid adenomas, growth along the 75th-90th centiles on the TS height curve despite a minimal treatment with growth hormone, behavioral problems, and evidence of gonadal dysgenesis with testicular-like structures, such as seminiferous tubules lined by Sertoli cells and a contiguous nodule of Leydig cells...
May 9, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29737526/short-dispersal-distance-of-males-in-a-wild-white-handed-gibbon-hylobates-lar-population
#12
Kazunari Matsudaira, Takafumi Ishida, Suchinda Malaivijitnond, Ulrich H Reichard
OBJECTIVES: It has long been recognized that in gibbons both sexes disperse from the natal group. However, the fate of dispersed individuals was rarely documented. Here we provide the first detailed information on sex differences in dispersal patterns by analyzing the spatial genetic structure of a well-known white-handed gibbon (Hylobates lar) population. MATERIALS AND METHODS: Mitochondrial DNA (mtDNA) and Y-chromosomal haplotypes, and autosomal microsatellite genotypes were determined for individuals of the Mo Singto study site, Khao Yai National Park, Thailand...
May 8, 2018: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/29736013/utx-mediated-enhancer-and-chromatin-remodeling-suppresses-myeloid-leukemogenesis-through-noncatalytic-inverse-regulation-of-ets-and-gata-programs
#13
Malgorzata Gozdecka, Eshwar Meduri, Milena Mazan, Konstantinos Tzelepis, Monika Dudek, Andrew J Knights, Mercedes Pardo, Lu Yu, Jyoti S Choudhary, Emmanouil Metzakopian, Vivek Iyer, Haiyang Yun, Naomi Park, Ignacio Varela, Ruben Bautista, Grace Collord, Oliver Dovey, Dimitrios A Garyfallos, Etienne De Braekeleer, Saki Kondo, Jonathan Cooper, Berthold Göttgens, Lars Bullinger, Paul A Northcott, David Adams, George S Vassiliou, Brian J P Huntly
The histone H3 Lys27-specific demethylase UTX (or KDM6A) is targeted by loss-of-function mutations in multiple cancers. Here, we demonstrate that UTX suppresses myeloid leukemogenesis through noncatalytic functions, a property shared with its catalytically inactive Y-chromosome paralog, UTY (or KDM6C). In keeping with this, we demonstrate concomitant loss/mutation of KDM6A (UTX) and UTY in multiple human cancers. Mechanistically, global genomic profiling showed only minor changes in H3K27me3 but significant and bidirectional alterations in H3K27ac and chromatin accessibility; a predominant loss of H3K4me1 modifications; alterations in ETS and GATA-factor binding; and altered gene expression after Utx loss...
May 7, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29734690/regulation-of-the-x-chromosome-in-the-germline-and-soma-of-drosophila-melanogaster-males
#14
Eliza Argyridou, John Parsch
During the evolution of heteromorphic sex chromosomes, the sex-specific Y chromosome degenerates, while the X chromosome evolves new mechanisms of regulation. Using bioinformatic and experimental approaches, we investigate the expression of the X chromosome in Drosophila melanogaster . We observe nearly complete X chromosome dosage compensation in male somatic tissues, but not in testis. The X chromosome contains disproportionately fewer genes with high expression in testis than the autosomes, even after accounting for the lack of dosage compensation, which suggests that another mechanism suppresses their expression in the male germline...
May 4, 2018: Genes
https://www.readbyqxmd.com/read/29732458/hepatocellular-carcinoma-virilization-and-hilus-cell-hyperplasia-in-a-girl-with-turner-syndrome
#15
Jennifer R Law, Sang Lee, Eizaburo Sasatomi, Christine E Bookhout, Julie Blatt
Patients with Turner syndrome (TS) are known to be at risk for excess androgen production and virilization associated with gonadoblastoma and Y chromosome mosaicism, and excess androgens are a risk factor for the development of hepatocellular carcinoma. However, virilization and hepatocellular carcinoma have not been described in a patient with TS. A 10-year-old with nonmosaic 45,X TS presented with clitoromegaly, accelerated linear growth velocity, advanced bone age, and elevated testosterone levels as well as a second occurrence of hepatocellular carcinoma...
May 1, 2018: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/29728767/the-forensic-value-of-x-linked-markers-in-mixed-male-dna-analysis
#16
HaiJun He, Lagabaiyila Zha, JinHong Cai, Jian Huang
Autosomal genetic markers and Y chromosome markers have been widely applied in analysis of mixed stains at crime scenes by forensic scientists. However, true genotype combinations are often difficult to distinguish using autosomal markers when similar amounts of DNA are contributed by multiple donors. In addition, specific individuals cannot be determined by Y chromosomal markers because male relatives share the same Y chromosome. X-linked markers, possessing characteristics somewhere intermediate between autosomes and the Y chromosome, are less universally applied in criminal casework...
May 4, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29726664/-association-of-abnormal-length-of-y-chromosome-with-semen-quality-and-outcome-of-assisted-reproductive-technology-in-humans
#17
Bin-Ye Li, Yong-Tian Zhang, Xiang-Hui Zeng, Jin-Chun Lü
Objective: To investigate the association of the abnormal length of human Y chromosome with semen quality and the outcome of assisted reproductive technology (ART). METHODS: Based on the karyotype, we assigned the patients undergoing ART to a normal control, a long Y chromosome (Y>18), and a short Y chromosome group (Y<22). We compared the semen parameters and numbers of embryos and high-quality embryos among the three groups of patients and performed statistical analysis of the obtained data using Chi-square distribution and t-test...
September 2017: Zhonghua Nan Ke Xue, National Journal of Andrology
https://www.readbyqxmd.com/read/29722813/imputor-phylogenetically-aware-software-for-imputation-of-errors-in-next-generation-sequencing
#18
Matthew Jobin, Haiko Schurz, Brenna M Henn
We introduce IMPUTOR, software for phylogenetically-aware imputation of missing haploid non-recombining genomic data. Targeted for next-generation sequencing data, IMPUTOR uses the principle of parsimony to impute data marked as missing due to low coverage. Along with efficiently imputing missing variant genotypes, IMPUTOR is capable of reliably and accurately correcting many non-missing sites that represent spurious sequencing errors. Tests on simulated data show that IMPUTOR is capable of detecting many induced mutations without making erroneous imputations/corrections, with as many as 95% of missing sites imputed and 81% of errors corrected under optimal conditions...
May 2, 2018: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29722562/nmda-receptor-activation-inhibits-the-anti-fibrotic-effect-of-bm-mscs-on-bleomycin-induced-pulmonary-fibrosis
#19
Xiao-Hong Li, Chen Li, Yiting Tang, Yan-Hong Huang, Qing-Mei Cheng, Xiao-Ting Huang, Feiyan Zhao, Cai-Xia Hao, Dan-Dan Feng, Jian-Ping Xu, Jianzhong Han, Siyuan Tang, Wei Liu, Shaojie Yue, Zi-Qiang Luo
Endogenous glutamate (Glu) release and N-methyl-D-aspartate (NMDA) receptor (NMDAR) activation are associated with lung injury in different animal models. However, the underlying mechanism is unclear. Bone marrow-derived mesenchymal stem cells (BM-MSCs), which show potential use for immunomodulation and tissue-protection, play a protective role in pulmonary fibrosis (PF) process. Here, we found the increased Glu release from the BM cells of bleomycin (BLM)-induced PF mice in vivo. BLM stimulation also increased the extracellular Glu in BM-MSCs via the antiporter system xc- in vitro...
May 3, 2018: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/29722137/effects-of-the-y-chromosome-and-the-dominant-hemimelia-mutation-on-the-morphology-of-the-mouse-mandible
#20
Jun-Ichi Suto
The aims of this study were to test whether the Y-chromosome and the autosomal dominant hemimelia (Dh) mutation can affect mandible morphology in mice. I analyzed mandible size and shape using landmark-based geometric morphometrics in 16 DH-Chr Y@ -+/+ (@ represents one of the inbred strain names) strains and observed significant differences in mandible size. The largest mandible was identified in strain DH-Chr YC3H and the smallest in strain DH-Chr YKK . Canonical variate and discriminant function analyses suggested that the mandible shapes of strains DH-Chr YC3H and DH-Chr YKK differed from those of the other strains...
May 2, 2018: Congenital Anomalies
keyword
keyword
51333
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"