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https://www.readbyqxmd.com/read/28223527/ancient-x-chromosomes-reveal-contrasting-sex-bias-in-neolithic-and-bronze-age-eurasian-migrations
#1
Amy Goldberg, Torsten Günther, Noah A Rosenberg, Mattias Jakobsson
Dramatic events in human prehistory, such as the spread of agriculture to Europe from Anatolia and the late Neolithic/Bronze Age migration from the Pontic-Caspian Steppe, can be investigated using patterns of genetic variation among the people who lived in those times. In particular, studies of differing female and male demographic histories on the basis of ancient genomes can provide information about complexities of social structures and cultural interactions in prehistoric populations. We use a mechanistic admixture model to compare the sex-specifically-inherited X chromosome with the autosomes in 20 early Neolithic and 16 late Neolithic/Bronze Age human remains...
February 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28222201/linkage-and-mapping-of-quantitative-trait-loci-associated-with-angular-leaf-spot-and-powdery-mildew-resistance-in-common-beans
#2
Denis Bassi, Boris Briñez, Juliana Santa Rosa, Paula Rodrigues Oblessuc, Caléo Panhoca de Almeida, Stella Maris Nucci, Larissa Chariel Domingos da Silva, Alisson Fernando Chiorato, Rosana Pereira Vianello, Luis Eduardo Aranha Camargo, Matthew Wohlgemuth Blair, Luciana Lasry Benchimol-Reis
Angular leaf spot (ALS) and powdery mildew (PWM) are two important fungi diseases causing significant yield losses in common beans. In this study, a new genetic linkage map was constructed using single sequence repeats (SSRs) and single nucleotide polymorphisms (SNPs), in a segregating population derived from the AND 277 x SEA 5 cross, with 105 recombinant inbred lines. Phenotypic evaluations were performed in the greenhouse to identify quantitative trait loci (QTLs) associated with resistance by means of the composite interval mapping analysis...
February 20, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28221368/no-evidence-for-the-presence-of-genetic-variants-predisposing-to-psychotic-disorders-on-the-non-deleted-22q11-2-allele-of-vcfs-patients
#3
M Guipponi, F Santoni, M Schneider, C Gehrig, X B Bustillo, W R Kates, B Morrow, M Armando, S Vicari, F Sloan-Béna, M Gagnebin, V Shashi, S R Hooper, S Eliez, S E Antonarakis
The velo-cardio-facial syndrome (VCFS) is caused by hemizygous deletions on chromosome 22q11.2. The VCFS phenotype is complex and characterized by frequent occurrence of neuropsychiatric symptoms with up to 25-30% of cases suffering from psychotic disorders compared with only ~1% in the general population (odds ratio≈20-25). This makes the 22q11.2 deletion one of the most prominent risk factors for schizophrenia. However, its penetrance for neuropsychiatric phenotypes is incomplete suggesting that additional risk factors are required for disease development...
February 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28220980/the-fire-ant-social-chromosome-supergene-variant-sb-shows-low-diversity-but-high-divergence-from-sb
#4
Rodrigo Pracana, Anurag Priyam, Ilya Levantis, Richard A Nichols, Yannick Wurm
Variation in social behavior is common yet little is known about the genetic architectures underpinning its evolution. A rare exception is in the fire ant Solenopsis invicta: Alternative variants of a supergene region determine whether a colony will have exactly one or up to dozens of queens. The two variants of this region are carried by a pair of "social chromosomes", SB and Sb, which resemble a pair of sex chromosomes. Recombination is suppressed between the two chromosomes in the supergene region. While the X-like SB can recombine with itself in SB/SB queens, recombination is effectively absent in the Y-like Sb because Sb/Sb queens die before reproducing...
February 21, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28220611/non-coding-rnas-emerging-regulatory-factors-in-the-derivation-and-differentiation-of-mammalian-parthenogenetic-embryonic-stem-cells
#5
REVIEW
Jihong Cui, Xin Xie
Parthenogenetic embryonic stem cells (PESCs) are ESCs derived from early parthenogenetic embryos. Haploid PESCs, containing haploid DNA, originate from a single sperm or occyte, while, diploid PESCs originate from two fused occytes. Most PESC lines used so far are diploid. PESCs exhibit representative pluripotent stem cell features, such as the capacity for self-renewal and the pariticular molecular signatures. Whereas, PESCs display distinctive properties, such as differential regulation of X-chromosome inactivation (XCI) and divergent monitor of genes involved in multiple biological processes...
February 21, 2017: Cell Biology International
https://www.readbyqxmd.com/read/28219234/-acute-lymphoblastic-leukemia-with-a-late-appearing-philadelphia-chromosome-a-case-report
#6
F F Yuan, H Ai, R H Mi, L Chen, Q S Yin, X D Wei, Y P Song
No abstract text is available yet for this article.
January 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28219225/-effect-of-nccn-2015-risk-stratification-on-prognosis-of-patients-with-acute-myeloid-leukemia-after-allogeneic-hematopoietic-stem-cell-transplantation
#7
Y Lu, T Wu, Y L Zhao, X Y Cao, D Y Liu, J P Zhang, M Xiong, J R Zhou, R J Sun, Z J Wei, H Wang, H X Liu, T Wang, C R Tong, S Q Ji, D P Lu
Objective: To analyze the effect of NCCN (2015) risk stratification on prognosis of patients with acute myeloid leukemia (AML) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) . Methods: Retrospective analysis of 258 patients with AML in CR (186 cases in CR(1), 72 cases in CR(2)) who underwent allogeneic HSCT in our hospital between April 2012 and March 2015 according to NCCN (2015) risk stratification. Of them, 63 cases were classified as low risk, 112 cases intermediate risk and 83 cases high risk...
January 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28219197/-down-regulation-of-mir-146b-5p-promotes-malignant-transformation-of-fusion-cells-after-co-culture-of-macrophages-with-glioma-stem-cells-in-vitro
#8
H H Cai, H Y Wang, H R Liu, Y J Sheng, D G Xi, Y P Xue, X L Dai, A D Wang, Q Huang, J Dong
Objective: To observe mutual interactions between macrophages(Mφ) and glioma stem cells (GSCs)in dual-color tracing model in vitro, to identify the biological characteristics of fusion cells in multiple levels, and to analysis the relevant molecular mechanisms. Methods: Red fluorescent protein(RFP) gene was stably transfected into human GSCs cell line SU4. Mφ cells were obtained from Balb/c nude mice with enhanced green fluorescent protein (EGFP) expression. Then two cells were co-cultured in dual-color tracing platform...
February 7, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28218888/using-clinical-signs-and-symptoms-for-medical-management-of-radiation-casualties-2015-nato-exercise
#9
H Dörr, M Abend, W F Blakely, D L Bolduc, D Boozer, T Costeira, T Dant, A De Amicis, S De Sanctis, M Dondey, M Drouet, F Entine, S Francois, G Gagna, N Guitard, F Hérodin, M Hoefer, A Lamkowski, G La Sala, F Lista, P Loiacono, M Majewski, P Martigne, D Métivier, X Michel, J Pateux, J Pejchal, G Reeves, D Riccobono, Z Sinkorova, L Soyez, D Stricklin, A Tichy, M Valente, C R Woodruff, L Zarybnicka, M Port
The utility of early-phase (≤5 days) radiation-induced clinical signs and symptoms (e.g., vomiting, diarrhea, erythema and changes in blood cell counts) was examined for the prediction of later occurring acute radiation syndrome (ARS) severity and the development of medical management strategies. Medical treatment protocols for radiation accident victims (METREPOL) was used to grade ARS severities, which were assigned response categories (RCs). Data on individuals (n = 191) with mild (RC1, n = 45), moderate (RC2, n = 19), severe (RC3, n = 20) and fatal (RC4, n = 18) ARS, as well as nonexposed individuals (RC0, n = 89) were generated using either METREPOL (n = 167) or the system for evaluation and archiving of radiation accidents based on case histories (SEARCH) database (n = 24), the latter comprised of real-case descriptions...
February 20, 2017: Radiation Research
https://www.readbyqxmd.com/read/28218778/identification-and-cloning-of-golden2-like1-glk1-a-transcription-factor-associated-with-chloroplast-development-in-brassica-napus-l
#10
Y L Pan, Y Pan, C M Qu, C G Su, J H Li, X G Zhang
Photosynthesis is the process by which dry matter accumulates, which affects rapeseed yield. In this study, we identified GOLDEN2-LIKE1 (GLK1), located on chromosome A07 and 59.2 kb away from the single nucleotide polymorphism marker SNP16353A07, which encodes a transcription factor associated with the rate of photosynthesis in leaves. We then identified 96 GLK1 family members from 53 species using a hidden Markov model (HMM) search and found 24 of these genes, which were derived from 17 Brassicaceae species...
February 16, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28214852/the-clinical-manifestation-and-genetic-evaluation-in-patients-with-45-x-46-xy-mosaicism
#11
Qinghua Wu, Cong Wang, Huirong Shi, Xiangdong Kong, Shumin Ren, Miao Jiang
45,X/46,XY mosaicism is a rare chromosomal abnormality and probably underdiagnosed. Although clinical and genetic analyses have been performed in some disorders of sexual development, there have been few studies focusing on the phenotype and genetic details of 45,X/46,XY mosaicism, especially in the Chinese population. The aim of this study was to describe the experience of our service in relation to 16 cases with 45,X/46,XY mosaicism. The age at the first evaluation of the patients ranged from 43 days to 30 years...
February 18, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28211539/genetic-analysis-of-19-x-chromosome-str-loci-for-forensic-purposes-in-four-chinese-ethnic-groups
#12
Xingyi Yang, Xiaofang Zhang, Junyong Zhu, Linli Chen, Changhui Liu, Xingling Feng, Ling Chen, Huijun Wang, Chao Liu
A new 19 X- short tandem repeat (STR) multiplex PCR system has recently been developed, though its applicability in forensic studies has not been thoroughly assessed. In this study, 932 unrelated individuals from four Chinese ethnic groups (Han, Tibet, Uighur and Hui) were successfully genotyped using this new multiplex PCR system. Our results showed significant linkage disequilibrium between markers DXS10103 and DXS10101 in all four ethnic groups; markers DXS10159 and DXS10162, DXS6809 and DXS6789, and HPRTB and DXS10101 in Tibetan populations; and markers DXS10074 and DXS10075 in Uighur populations...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28209763/revisiting-suppression-of-interspecies-hybrid-male-lethality-in-caenorhabditis-nematodes
#13
Lauren E Ryan, Eric S Haag
Within the nematode genus Caenorhabditis, C. briggsae and C. nigoni are among the most closely related species known. They differ in sexual mode, with C. nigoni retaining the ancestral XO male-XX female outcrossing system, while C. briggsae recently evolved self-fertility and an XX-biased sex ratio. Wild-type C. briggsae and C. nigoni can produce fertile hybrid XX female progeny, but XO progeny are either 100% inviable (when C. briggsae is the mother) or viable but sterile (when C. nigoni is the mother). A recent study provided evidence suggesting that loss of the Cbr-him-8 meiotic regulator in C...
February 16, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28207948/right-sided-aortic-arch-in-the-age-of-microarray
#14
Edward F O'Mahony, Darren P Hutchinson, George McGillivray, Debbie L Nisbet, Ricardo Palma-Dias
OBJECTIVE: For fetuses with a diagnosis of right aortic arch and normal cardiac anatomy we aimed to establish the frequency of chromosomal anomaly diagnosed with SNP microarray analysis, particularly focusing on microduplications or microdeletions which would have gone undetected by conventional karyotyping and 6 probe fish (13,18,21, X,Y, TUPLE). METHOD: Retrospective study of fetal ultrasounds between 2011 and 2016 in an Australian tertiary referral centre. Outcomes of interest were survival and postnatal surgery for vascular ring...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28205222/strong-amerindian-mitonuclear-discordance-in-puerto-rican-genomes-suggests-amerindian-mitochondrial-benefit
#15
Steven E Massey
A large discrepancy between the Amerindian contribution to the mitochondrial and nuclear genetic components of 55 Puerto Rican (PR) genomes from the 1000 Genomes Project is identified, with Amerindian mitochondrial haplotypes being highly represented (67.3%), in strong contrast to the Amerindian autosomal contribution (12.9%). I examine the potential causes behind this strong mitonuclear discordance. The Amerindian contribution to the X chromosome is 19.8%, implying assortative mating with Amerindian females during the establishment of the PR population...
March 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28203736/identification-of-kiaa1210-as-a-novel-x-chromosome-linked-protein-that-localizes-to-the-acrosome-and-associates-with-the-ectoplasmic-specialization-in-testes
#16
Tokuko Iwamori, Naoki Iwamori, Masaki Matsumoto, Etsuro Ono, Martin M Matzuk
No abstract text is available yet for this article.
February 1, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28197741/correlation-between-the-col4a3-mmp-9-and-timp-1-polymorphisms-and-risk-of-keratoconus
#17
Ramin Saravani, Davood Yari, Samira Saravani, Farzaneh Hasanian-Langroudi
PURPOSE: Keratoconus (KC) is thinning of the central cornea. Its etiology is unknown, but it may result from degrading of collagen type IV. The major protein in the cornea is collagen. Matrix metalloproteinase-9 (MMP-9) is able to degrade collagen type IV from the basement membrane and extracellular matrix (ECM). MMP-9 enzymatic activity is inhibited by the tissue inhibitor of metalloproteinase-1 (TIMP-1). In the present study, we sought to investigate and evaluate the effects of single nucleotide polymorphisms in COL4A3, MMP-9, and TIMP-1 on the risk of KC in an Iranian population sample...
February 14, 2017: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28196480/genome-wide-detection-of-genetic-markers-associated-with-growth-and-fatness-in-four-pig-populations-using-four-approaches
#18
Yuanmei Guo, Yixuan Huang, Lijuan Hou, Junwu Ma, Congying Chen, Huashui Ai, Lusheng Huang, Jun Ren
BACKGROUND: Genome-wide association studies (GWAS) have been extensively used to identify genomic regions associated with a variety of phenotypic traits in pigs. Until now, most GWAS have explored single-trait association models. Here, we conducted both single- and multi-trait GWAS and a meta-analysis for nine fatness and growth traits on 2004 pigs from four diverse populations, including a White Duroc × Erhualian F2 intercross population and Chinese Sutai, Laiwu and Erhualian populations...
February 14, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28193834/genome-wide-analysis-of-the-circulating-mirnome-after-cerebral-ischemia-reveals-a-reperfusion-induced-microrna-cluster
#19
Stefan Uhlmann, Eva Mracsko, Ehsan Javidi, Sarah Lamble, Ana Teixeira, Agnes Hotz-Wagenblatt, Karl-Heinz Glatting, Roland Veltkamp
BACKGROUND AND PURPOSE: Circulating microRNAs (miRNAs) are emerging biomarkers for stroke because of their high stability in the bloodstream and association with pathophysiologic conditions. However, the circulating whole-genome miRNAs (miRNome) has not been characterized comprehensively in the acute phase of stroke. METHODS: We profiled the circulating miRNome in mouse models of acute ischemic and hemorrhagic stroke by next-generation sequencing. Stroke models were compared with sham-operated and naive mice to identify deregulated circulating miRNAs...
February 13, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28190795/progress-in-understanding-the-molecular-functions-of-ddx3y-dby-in-male-germ-cell-development-and-maintenance
#20
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
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