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https://www.readbyqxmd.com/read/28742271/genetic-genealogy-approach-reveals-low-rate-of-extrapair-paternity-in-historical-dutch-populations
#1
Maarten H D Larmuseau, Sofie Claerhout, Leen Gruyters, Kelly Nivelle, Michiel Vandenbosch, Anke Peeters, Pieter van den Berg, Tom Wenseleers, Ronny Decorte
OBJECTIVE: Evolutionary theory has shown that seeking out extrapair paternity (EPP) can be a viable reproductive strategy for both sexes in pair-bonded species, also in humans. As yet, estimates of the contemporary or historical EPP rate in human population are still rare. In the present study, we estimated the historical EPP rate in the Dutch population over the last 400 years and compared the rate with those obtained for other human populations to determine the evolutionary, cultural, and socio-demographic factors that influence human cuckoldry behavior...
July 25, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28742125/y-chromosomal-evidence-on-the-origin-of-northern-thai-people
#2
Andrea Brunelli, Jatupol Kampuansai, Mark Seielstad, Khemika Lomthaisong, Daoroong Kangwanpong, Silvia Ghirotto, Wibhu Kutanan
The Khon Mueang represent the major group of people present in today's northern Thailand. While linguistic and genetic data seem to support a shared ancestry between Khon Mueang and other Tai-Kadai speaking people, the possibility of an admixed origin with contribution from local Mon-Khmer population could not be ruled out. Previous studies conducted on northern Thai people did not provide a definitive answer and, in addition, have largely overlooked the distribution of paternal lineages in the area. In this work we aim to provide a comprehensive analysis of Y paternal lineages in northern Thailand and to explicitly model the origin of the Khon Mueang population...
2017: PloS One
https://www.readbyqxmd.com/read/28736914/internal-diversification-of-non-sub-saharan-haplogroups-in-sahelian-populations-and-the-spread-of-pastoralism-beyond-the-sahara
#3
Iva Kulichová, Verónica Fernandes, Alioune Deme, Jana Nováčková, Vlastimil Stenzl, Andrea Novelletto, Luísa Pereira, Viktor Černý
BACKGROUND: Today, African pastoralists are found mainly in the Sahel/Savannah belt spanning 6,000 km from west to east, flanked by the Sahara to the north and tropical rainforests to the south. The most significant group among them are the Fulani who not only keep cattle breeds of possible West Eurasian ancestry, but form themselves a gene pool containing some paternally and maternally-transmitted West Eurasian haplogroups. MATERIALS AND METHODS: We generated complete sequences for 33 mitogenomes belonging to haplogroups H1 and U5 (23 and 10, respectively), and genotyped 16 STRs in 65 Y chromosomes belonging to haplogroup R1b-V88...
July 24, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28733587/identification-and-analysis-of-mtdna-genomes-attributed-to-finns-reveal-long-stagnant-demographic-trends-obscured-in-the-total-diversity
#4
Sanni Översti, Päivi Onkamo, Monika Stoljarova, Bruce Budowle, Antti Sajantila, Jukka U Palo
In Europe, modern mitochondrial diversity is relatively homogeneous and suggests an ubiquitous rapid population growth since the Neolithic revolution. Similar patterns also have been observed in mitochondrial control region data in Finland, which contrasts with the distinctive autosomal and Y-chromosomal diversity among Finns. A different picture emerges from the 843 whole mitochondrial genomes from modern Finns analyzed here. Up to one third of the subhaplogroups can be considered as Finn-characteristic, i...
July 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28733530/presence-of-embryonic-dna-in-culture-medium
#5
Linlin Yang, Qiaoying Lv, Wei Chen, Jian Sun, Yu Wu, Yiying Wang, Xiong Chen, Xiaojun Chen, Zhenbo Zhang
Preimplantation genetic diagnosis (PGD) has successfully assisted couples with genetic diseases to conceive healthy babies during the past decades. However, biopsy of the blastomere has potential lesion to the embryos which commonly results in abortion. Thus, a noninvasive PGD is needed. In the past, the presence of genetic materials in maternal plasma or serum has triggered a great innovation of noninvasive prenatal diagnosis. Nevertheless, it is not clear whether embryonic DNA is also present in embryonic culture medium...
June 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28730893/multicenter-study-of-genetic-abnormalities-associated-with-severe-oligospermia-and-non-obstructive-azoospermia
#6
Chong Xie, Xiangfeng Chen, Yulin Liu, Zhengmu Wu, Ping Ping
Objective * Chong Xie, Xiangfeng Chen, and Yulin Liu contributed equally to this work. Genetic defects are identified in nearly 20% of infertile males. Determining the frequency and types of major genetic abnormalities in severe male infertility helps inform appropriate genetic counseling before assisted reproductive techniques. Methods Cytogenetic results of 912 patients with non-obstructive azoospermia (NOA) and severe oligozoospermia (SOS) in Eastern China were reviewed in this multicenter study from January 2011 to December 2015...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28723952/evidence-for-prehistoric-origins-of-the-g2019s-mutation-in-the-north-african-berber-population
#7
Rafiqua Ben El Haj, Ayyoub Salmi, Wafa Regragui, Ahmed Moussa, Naima Bouslam, Houyam Tibar, Ali Benomar, Mohamed Yahyaoui, Ahmed Bouhouche
The most common cause of the monogenic form of Parkinson's disease known so far is the G2019S mutation of the leucine-rich repeat kinase 2 (LRRK2) gene. Its frequency varies greatly among ethnic groups and geographic regions ranging from less than 0.1% in Asia to 40% in North Africa. This mutation has three distinct haplotypes; haplotype 1 being the oldest and most common. Recent studies have dated haplotype 1 of the G2019S mutation to about 4000 years ago, but it remains controversial whether the mutation has a Near-Eastern or Moroccan-Berber ancestral origin...
2017: PloS One
https://www.readbyqxmd.com/read/28718531/next-generation-sequencing-for-patients-with-non-obstructive-azoospermia-implications-for-significant-roles-of-monogenic-oligogenic-mutations
#8
S Nakamura, M Miyado, K Saito, M Katsumi, A Nakamura, Y Kobori, Y Tanaka, H Ishikawa, A Yoshida, H Okada, K Hata, K Nakabayashi, K Okamura, H Ogata, Y Matsubara, T Ogata, H Nakai, M Fukami
Azoospermia affects up to 1% of adult men. Non-obstructive azoospermia is a multifactorial disorder whose molecular basis remains largely unknown. To date, mutations in several genes and multiple submicroscopic copy-number variations (CNVs) have been identified in patients with non-obstructive azoospermia. The aim of this study was to clarify the contribution of nucleotide substitutions in known causative genes and submicroscopic CNVs in the genome to the development of non-obstructive azoospermia. To this end, we conducted sequence analysis of 25 known disease-associated genes using next-generation sequencing and genome-wide copy-number analysis using array-based comparative genomic hybridization...
July 2017: Andrology
https://www.readbyqxmd.com/read/28713994/molecular%C3%A2-cytogenetic-study-of-de-novo-mosaic-karyotype-45-x-46-x-i-yq-46-x-idic-yq-in-an-azoospermic-male-case-report-and-literature-review
#9
Yuting Jiang, Ruixue Wang, Linlin Li, Lintao Xue, Shu Deng, Ruizhi Liu
The present study describes a 36‑year‑old male with the 45,X/46,X,i(Yq)/46,X,idic(Yq) karyotype, who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte. To the best of our knowledge, this rare karyotype has not yet been reported in the literature. The results of detailed molecular‑cytogenetic studies of isodicentric (idic)Y chromosomes and isochromosome (iso)Y, which are identified in patient with complex mosaic karyotypes, are presented. The presence of mosaicism of the three cell lines 45,X, 46,X,i(Yq) and 46,X,idic(Yq) may be a contributing factor for spermatogenic failure, in addition to the instability of iso/idic Y chromosomes to pass the spermatogenesis process...
September 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28712569/extensive-farming-in-estonia-started-through-a-sex-biased-migration-from-the-steppe
#10
Lehti Saag, Liivi Varul, Christiana Lyn Scheib, Jesper Stenderup, Morten E Allentoft, Lauri Saag, Luca Pagani, Maere Reidla, Kristiina Tambets, Ene Metspalu, Aivar Kriiska, Eske Willerslev, Toomas Kivisild, Mait Metspalu
The transition from hunting and gathering to farming in Europe was brought upon by arrival of new people carrying novel material culture and genetic ancestry. The exact nature and scale of the transition-both material and genetic-varied in different parts of Europe [1-7]. Farming-based economies appear relatively late in Northeast Europe, and the extent to which they involve change in genetic ancestry is not fully understood due to the lack of relevant ancient DNA data. Here we present the results from new low-coverage whole-genome shotgun sequence data from five hunter-gatherers and five first farmers of Estonia whose remains date to 4,500 to 6,300 years before present...
July 24, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28705249/vector-control-with-driving-y-chromosomes-modelling-the-evolution-of-resistance
#11
Andrea Beaghton, Pantelis John Beaghton, Austin Burt
BACKGROUND: The introduction of new malaria control interventions has often led to the evolution of resistance, both of the parasite to new drugs and of the mosquito vector to new insecticides, compromising the efficacy of the interventions. Recent progress in molecular and population biology raises the possibility of new genetic-based interventions, and the potential for resistance to evolve against these should be considered. Here, population modelling is used to determine the main factors affecting the likelihood that resistance will evolve against a synthetic, nuclease-based driving Y chromosome that produces a male-biased sex ratio...
July 14, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28703322/the-drosophila-simulans-y-chromosome-interacts-with-the-autosomes-to-influence-male-fitness
#12
C Ruth Archer, Robert M Stephens, Manmohan D Sharma, David J Hosken
The Y chromosome should degenerate because it cannot recombine. However, male limited transmission increases selection efficiency for male benefit alleles on the Y, and therefore Y-chromosomes should contribute significantly to variation in male-fitness. This means that although the Drosophila Y chromosome is small and gene-poor, Y-linked genes are vital for male fertility in D. melanogaster and the Y chromosome has large male-fitness effects. It is unclear if the same pattern is seen in the closely related D...
July 13, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/28699276/y-chromosome-and-mtdna-variation-confirms-independent-domestications-and-directional-hybridization-in-south-american-camelids
#13
J C Marín, K Romero, R Rivera, W E Johnson, B A González
Investigations of genetic diversity and domestication in South American camelids (SAC) have relied on autosomal microsatellite and maternally-inherited mitochondrial data. We present the first integrated analysis of domestic and wild SAC combining male and female sex-specific markers (male specific Y-chromosome and female-specific mtDNA sequence variation) to assess: (i) hypotheses about the origin of domestic camelids, (ii) directionality of introgression among domestic and/or wild taxa as evidence of hybridization and (iii) currently recognized subspecies patterns...
July 11, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28681914/2-000-year-old-%C3%AE-thalassemia-case-in-sardinia-suggests-malaria-was-endemic-by-the-roman-period
#14
Claudia Viganó, Cordula Haas, Frank J Rühli, Abigail Bouwman
OBJECTIVES: The island of Sardinia has one of the highest incidence rates of β-thalassemia in Europe due to its long history of endemic malaria, which, according to historical records, was introduced around 2,600 years ago by the Punics and only became endemic around the Middle Ages. In particular, the cod39 mutation is responsible for more than 95% of all β-thalassemia cases observed on the island. Debates surround the origin of the mutation. Some argue that its presence in the Western Mediterranean reflects the migration of people away from Sardinia, others that it reflects the colonization of the island by the Punics who might have carried the disease allele...
July 6, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28680672/phylogenetic-evidence-for-the-ancient-himalayan-wolf-towards-a-clarification-of-its-taxonomic-status-based-on-genetic-sampling-from-western-nepal
#15
Geraldine Werhahn, Helen Senn, Jennifer Kaden, Jyoti Joshi, Susmita Bhattarai, Naresh Kusi, Claudio Sillero-Zubiri, David W Macdonald
Wolves in the Himalayan region form a monophyletic lineage distinct from the present-day Holarctic grey wolf Canis lupus spp. (Linnaeus 1758) found across Eurasia and North America. Here, we analyse phylogenetic relationships and the geographic distribution of mitochondrial DNA haplotypes of the contemporary Himalayan wolf (proposed in previous studies as Canis himalayensis) found in Central Asia. We combine genetic data from a living Himalayan wolf population collected in northwestern Nepal in this study with already published genetic data, and confirm the Himalayan wolf lineage based on mitochondrial genomic data (508 bp cytochrome b and 242 bp D-loop), and X- and Y-linked zinc-finger protein gene (ZFX and ZFY) sequences...
June 2017: Royal Society Open Science
https://www.readbyqxmd.com/read/28680088/developmental-validation-of-a-6-dye-typing-system-with-27-loci-and-application-in-han-population-of-china
#16
Yaju Liu, Lihong Guo, Haiying Jin, Zheng Li, Rufeng Bai, Meisen Shi, Shuhua Ma
In this study, a novel 27-locus system (now known as the SureID PanGlobal system), including 24 autosomal STRs (D3S1358, TH01, D21S11, D18S51, Penta E, D12S391, D6S1043, D2S1338, D1S1656, D2S441, D5S818, D13S317, D7S820, D19S433, CSF1PO, Penta D, vWA, D8S1179, TPOX, FGA, D16S539, D22S1045, SE33, D10S1248), two Y-chromosome markers (DYS391 and Y-indel) and the sex determining marker, Amelogenin was developed with six fluorescent dyes labeling. The included STR loci belonged to the core loci in the Combined DNA Index System (CODIS) and the European Standard Set (ESS) as well as some additional loci commonly used in commercial kits and national DNA databases...
July 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28676938/the-first-report-of-gynandromorphy-in-termites-isoptera-kalotermitidae-neotermes-koshunensis
#17
Yasushi Miyaguni, Tomonari Nozaki, Toshihisa Yashiro
This is the first report of gynandromorphy in Isoptera. An Asian dry-wood termite, Neotermes koshunensis (Shiraki) [Kalotermitidae], possessing both male and female phenotypic characteristics, was found on Okinawa Island, Japan. This deformed individual showed morphological and anatomical hermaphroditism in the abdomen. The right side of the seventh sternite was the female form and contained an ovary, while the left side was the male form and contained a testis. Genotypic analysis revealed that this individual was a genotypic bilateral chimera...
August 2017: Die Naturwissenschaften
https://www.readbyqxmd.com/read/28675502/dmrt1-polymorphism-and-sex-chromosome-differentiation-in-rana-temporaria
#18
Nicolas Rodrigues, Tania Studer, Christophe Dufresnes, Wen-Juan Ma, Paris Veltsos, Nicolas Perrin
Sex-determination mechanisms vary both within and among populations of common frogs, opening opportunities to investigate the molecular pathways and ultimate causes shaping their evolution. We investigated the association between sex-chromosome differentiation (as assayed from microsatellites) and polymorphism at the candidate sex-determining gene Dmrt1 in two Alpine populations. Both populations harbored a diversity of X-linked and Y-linked Dmrt1 haplotypes. Some males had fixed male-specific alleles at all markers ('differentiated' Y chromosomes), others only at Dmrt1 ('proto-' Y chromosomes), while still others were genetically indistinguishable from females (undifferentiated X chromosomes)...
July 4, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28669755/y-chromosome-uncovers-the-recent-oriental-origin-of-modern-stallions
#19
Barbara Wallner, Nicola Palmieri, Claus Vogl, Doris Rigler, Elif Bozlak, Thomas Druml, Vidhya Jagannathan, Tosso Leeb, Ruedi Fries, Jens Tetens, Georg Thaller, Julia Metzger, Ottmar Distl, Gabriella Lindgren, Carl-Johan Rubin, Leif Andersson, Robert Schaefer, Molly McCue, Markus Neuditschko, Stefan Rieder, Christian Schlötterer, Gottfried Brem
The Y chromosome directly reflects male genealogies, but the extremely low Y chromosome sequence diversity in horses has prevented the reconstruction of stallion genealogies [1, 2]. Here, we resolve the first Y chromosome genealogy of modern horses by screening 1.46 Mb of the male-specific region of the Y chromosome (MSY) in 52 horses from 21 breeds. Based on highly accurate pedigree data, we estimated the de novo mutation rate of the horse MSY and showed that various modern horse Y chromosome lineages split much later than the domestication of the species...
July 10, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28667856/interaction-between-y-chromosome-haplogroup-o3-and-4-n-octylphenol-exposure-reduces-the-susceptibility-to-spermatogenic-impairment-in-han-chinese
#20
Weiyue Hu, Minjian Chen, Juan Ji, Yufeng Qin, Feng Zhang, Miaofei Xu, Wei Wu, Guizhen Du, Di Wu, Xiumei Han, Li Jin, Yankai Xia, Chuncheng Lu, Xinru Wang
Certain genetic background (mainly Y chromosome haplogroups, Y-hg) may modify the susceptibility of certain environmental exposure to some diseases. Compared with respective main effects of genetic background or environmental exposure, interactions between them reflect more realistic combined effects on the susceptibility to a disease. To identify the interactions on spermatogenic impairment, we performed Y chromosome haplotyping and measurement of 9 urinary phenols concentrations in 774 infertile males and 520 healthy controls in a Han Chinese population, and likelihood ratio tests were used to examine the interactions between Y-hgs and phenols...
June 28, 2017: Ecotoxicology and Environmental Safety
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