keyword
MENU ▼
Read by QxMD icon Read
search

X chromosome

keyword
https://www.readbyqxmd.com/read/29781541/the-two-rules-of-speciation-in-species-with-young-sex-chromosomes
#1
Dmitry A Filatov
The two "rules of speciation", Haldane's rule (HR) and the large-X effect (LXE), are thought to be caused by recessive species incompatibilities exposed in the phenotype due to the hemizygosity of X-linked genes in the heterogametic sex. Thus, the reports of HR and the LXE in species with recently evolved non- or partially-degenerate Y-chromosomes, such as Silene latifolia and its relatives, were surprising. Here I argue that rapid species-specific degeneration of Y-linked genes and associated adjustment of expression of X-linked gametologs (dosage compensation) may lead to rapid evolution of sex-linked species incompatibilities...
May 21, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29780353/normal-performance-in-non-visual-social-cognition-tasks-in-women-with-turner-syndrome
#2
David Anaki, Tal Zadikov-Mor, Vardit Gepstein, Ze'ev Hochberg
Turner syndrome (TS) is a chromosomal disorder in women resulting from a partial or complete absence of the X chromosome. In addition to physical and hormonal dysfunctions, along with a unique neurocognitive profile, women with TS are reported to suffer from social functioning difficulties. Yet, it is unclear whether these difficulties stem from impairments in social cognition per se or from other deficits that characterize TS but are not specific to social cognition. Previous research that has probed social functioning in TS is equivocal regarding the source of these psychosocial problems since they have mainly used tasks that were dependent on visual-spatial skills, which are known to be compromised in TS...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29779352/-effect-of-1q21-amplification-on-bortezomib-therapeutic-response-and-prognosis-of-newly-diagnosed-multiple-myeloma-patients
#3
X L Liu, P Y Yang, X Y Yu, J C Chen, X L Liu, J Bai, Y M Liu, H He, J N Sun, H Q Fan, C Zhang, Y Zhang, K J Su, C S Liu, Y H Tan, S J Gao, W Li, F Y Jin
Objective: To investigate the effect of 1q21 amplification (1q) on the therapeutic response and prognosis of bortezomib(Btz) in the treatment of newly diagnosed multiple myeloma (MM) patients. Methods: A total of 180 newly diagnosed MM were included for analyses of clinical characteristics, cytogenetics, objective response rate (ORR), progression-free survival (PFS) and overall survival (OS), retrospectively. Gene expression profiling (GEP) was analyzed using publicly available R2 platform. Results: ① In 180 patients, 1q was found in 51...
May 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29779151/genetic-portrait-and-phylogenetic-analysis-of-an-aksu-uyghur-population-based-on-the-19-x-str-system
#4
Ye Li, Jihong Zeng, Yujiang Fan, Guanglin He, Mingkun Xie, Tianzhen Gao, Shouyu Wang, Jin Wu
The X chromosome has a special mode of inheritance, and is thus a rich resource for population studies. In this study, the allele frequencies and forensic statistics of the 19 X chromosomal short tandem repeat loci were evaluated in 500 Uyghur individuals from Aksu Prefecture in northwest China. We further aimed to study whether the Uyghur populations located in various regions of Xinjiang share similar allele and haplotype frequency distributions, as they have experienced genetic exchanges. Population comparisons, PCA and MDS were performed for the Uyghurs and 27 populations and the results indicate that the Uyghur minority in Aksu has a relatively close phylogenetic relationship with East Asians, especially the Kazakh minority...
May 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29777493/transgenic-mice-carrying-glud2-as-a-tool-for-studying-the-expressional-and-the-functional-adaptation-of-this-positive-selected-gene-in-human-brain-evolution
#5
Andreas Plaitakis, Dimitra Kotzamani, Zoe Petraki, Maria Delidaki, Vagelis Rinotas, Ioannis Zaganas, Eleni Douni, Kyriaki Sidiropoulou, Cleanthe Spanaki
Human evolution is characterized by brain expansion and up-regulation of genes involved in energy metabolism and synaptic transmission, including the glutamate signaling pathway. Glutamate is the excitatory transmitter of neural circuits sub-serving cognitive functions, with glutamate-modulation of synaptic plasticity being central to learning and memory. GLUD2 is a novel positively-selected human gene involved in glutamatergic transmission and energy metabolism that underwent rapid evolutionary adaptation concomitantly with prefrontal cortex enlargement...
May 18, 2018: Neurochemical Research
https://www.readbyqxmd.com/read/29775749/a-novel-oncogene-urg4-urgcp-and-its-role-in-cancer
#6
REVIEW
Yavuz Dodurga, Mücahit Seçme, N Lale Şatıroğlu-Tufan
Oncogenes are mutated form of normal cellular genes called as proto-oncogenes and conduce to the cancer development process. Despite the fact that so many genes have been described, new genes with oncogenic characteristic and potential or tumor supressoring activity are still being defined. Recently, Up-regulated gene 4/Upregulator of cell proliferation (URG4/URGCP), a novel gene, induced by hepatitis-Bvirus-encoded X antigen (HBxAg), has been identified. URG4/URGCP gene was registered to the National Center for Biotechnology Information-GenBank (NCBI-GenBank, Entrez GeneID: 55665 and Entrez Nucleotide ID NM_017920)...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29773953/mir-34a-mediated-regulation-of-xist-in-female-cells-under-inflammation
#7
Botros B Shenoda, Yuzhen Tian, Guillermo M Alexander, Enrique Aradillas-Lopez, Robert J Schwartzman, Seena K Ajit
Background: Evidence is overwhelming for sex differences in pain, with women representing the majority of the chronic pain patient population. There is a need to explore novel avenues to elucidate this sex bias in the development of chronic inflammatory pain conditions. Complex regional pain syndrome (CRPS) is a chronic neuropathic pain disorder, and the incidence of CRPS is greater in women than in men by ~4:1. Since neurogenic inflammation is a key feature of CRPS, dysregulation of inflammatory responses can be a factor in predisposing women to chronic pain...
2018: Journal of Pain Research
https://www.readbyqxmd.com/read/29769286/targeted-inhibition-of-histone-h3k27-demethylation-is-effective-in-high-risk-neuroblastoma
#8
Timothy L Lochmann, Krista M Powell, Jungoh Ham, Konstantinos V Floros, Daniel A R Heisey, Richard I J Kurupi, Marissa L Calbert, Maninderjit S Ghotra, Patricia Greninger, Mikhail Dozmorov, Madhu Gowda, Andrew J Souers, C Patrick Reynolds, Cyril H Benes, Anthony C Faber
High-risk neuroblastoma is often distinguished by amplification of MYCN and loss of differentiation potential. We performed high-throughput drug screening of epigenetic-targeted therapies across a large and diverse tumor cell line panel and uncovered the hypersensitivity of neuroblastoma cells to GSK-J4, a small-molecule dual inhibitor of lysine 27 of histone 3 (H3K27) demethylases ubiquitously transcribed tetratricopeptide repeat, X chromosome (UTX), and histone demethylase Jumonji D3 (JMJD3). Mechanistically, GSK-J4 induced neuroblastoma differentiation and endoplasmic reticulum (ER) stress, with accompanying up-regulation of p53 up-regulated modulator of apoptosis (PUMA) and induction of cell death...
May 16, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29769284/dynamic-copy-number-evolution-of-x-and-y-linked-ampliconic-genes-in-human-populations
#9
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/29764912/mitochondrial-pitrm1-peptidase-loss-of-function-in-childhood-cerebellar-atrophy
#10
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
OBJECTIVE: To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. METHODS: Identification of the underlying mutations by whole exome and whole genome sequencing. Consequences were examined in patients' cells and in yeast. RESULTS: Two brothers from a consanguineous Palestinian family presented with progressive spinocerebellar ataxia, mental retardation and psychotic episodes...
May 15, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29763708/pcdh19-regulation-of-neural-progenitor-cell-differentiation-suggests-asynchrony-of-neurogenesis-as-a-mechanism-contributing-to-pcdh19-girls-clustering-epilepsy
#11
Claire C Homan, Stephen Pederson, Thu-Hien To, Chuan Tan, Sandra Piltz, Mark Corbett, Ernst Wolvetang, Paul Thomas, Lachlan A Jolly, Jozef Gecz
PCDH19-Girls Clustering Epilepsy (PCDH19-GCE) is a childhood epileptic encephalopathy characterised by a spectrum of neurodevelopmental problems. PCDH19-GCE is caused by heterozygous loss-of-function mutations in the X-chromosome gene, Protocadherin 19 (PCDH19) encoding a cell-cell adhesion molecule. Intriguingly, hemizygous males are generally unaffected. As PCDH19 is subjected to random X-inactivation, heterozygous females are comprised of a mosaic of cells expressing either the normal or mutant allele, which is thought to drive pathology...
May 12, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29760651/human-dna-helicase-b-as-a-candidate-for-unwinding-secondary-cgg-repeat-structures-at-the-fragile-x-mental-retardation-gene
#12
Gulfem D Guler, Zev Rosenwaks, Jeannine Gerhardt
The fragile X syndrome (FXS) is caused by a CGG repeat expansion at the fragile X mental retardation ( FMR1 ) gene. FMR1 alleles with more than 200 CGG repeats bear chromosomal fragility when cells experience folate deficiency. CGG repeats were reported to be able to form secondary structures, such as hairpins, in vitro . When such secondary structures are formed, repeats can lead to replication fork stalling even in the absence of any additional perturbation. Indeed, it was recently shown that the replication forks stall at the endogenous FMR1 locus in unaffected and FXS cells, suggesting the formation of secondary repeat structures at the FMR1 gene in vivo ...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29760424/parental-haplotype-specific-single-cell-transcriptomics-reveal-incomplete-epigenetic-reprogramming-in-human-female-germ-cells
#13
Ábel Vértesy, Wibowo Arindrarto, Matthias S Roost, Björn Reinius, Vanessa Torrens-Juaneda, Monika Bialecka, Ioannis Moustakas, Yavuz Ariyurek, Ewart Kuijk, Hailiang Mei, Rickard Sandberg, Alexander van Oudenaarden, Susana M Chuva de Sousa Lopes
In contrast to mouse, human female germ cells develop asynchronously. Germ cells transition to meiosis, erase genomic imprints, and reactivate the X chromosome. It is unknown if these events all appear asynchronously, and how they relate to each other. Here we combine exome sequencing of human fetal and maternal tissues with single-cell RNA-sequencing of five donors. We reconstruct full parental haplotypes and quantify changes in parental allele-specific expression, genome-wide. First we distinguish primordial germ cells (PGC), pre-meiotic, and meiotic transcriptional stages...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29756331/mammalian-x-chromosome-dosage-compensation-perspectives-from-the-germ-line
#14
REVIEW
Mahesh N Sangrithi, James M A Turner
Sex chromosomes are advantageous to mammals, allowing them to adopt a genetic rather than environmental sex determination system. However, sex chromosome evolution also carries a burden, because it results in an imbalance in gene dosage between females (XX) and males (XY). This imbalance is resolved by X dosage compensation, which comprises both X chromosome inactivation and X chromosome upregulation. X dosage compensation has been well characterized in the soma, but not in the germ line. Germ cells face a special challenge, because genome wide reprogramming erases epigenetic marks responsible for maintaining the X dosage compensated state...
May 14, 2018: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
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
#15
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
#16
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/29751495/a-comparison-of-selective-pressures-in-plant-x-linked-and-autosomal-genes
#17
Marc Krasovec, Bruno Nevado, Dmitry A Filatov
Selection is expected to work differently in autosomal and X-linked genes because of their ploidy difference and the exposure of recessive X-linked mutations to haploid selection in males. However, it is not clear whether these expectations apply to recently evolved sex chromosomes, where many genes retain functional X- and Y-linked gametologs. We took advantage of the recently evolved sex chromosomes in the plant Silene latifolia and its closely related species to compare the selective pressures between hemizygous and non-hemizygous X-linked genes as well as between X-linked genes and autosomal genes...
May 3, 2018: Genes
https://www.readbyqxmd.com/read/29748255/disruption-of-a-gata1-binding-motif-upstream-of-xg-pbdx-abolishes-xg-a-expression-and-resolves-the-xg-blood-group-system
#18
Mattias Möller, Yan Quan Lee, Karina Vidovic, Sven Kjellström, Linda Björkman, Jill R Storry, Martin L Olsson
The Xga blood group is differentially expressed on erythrocytes from males and females. The underlying gene, PBDX , was identified already in 1994 but the molecular background for Xga expression remains undefined. This gene, now designated XG , partly resides in the pseudoautosomal region 1 and encodes a protein of unknown function from the X chromosome. By comparing calculated Xga allele frequencies in different populations to 2,612 genetic variants in the XG region, rs311103 showed the strongest correlation to the expected distribution...
May 10, 2018: Blood
https://www.readbyqxmd.com/read/29747568/classical-fragile-x-phenotype-in-a-female-infant-disclosed-by-comprehensive-genomic-studies
#19
Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
BACKGROUND: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. CASE PRESENTATION: We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history...
May 10, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29745274/relationship-of-the-interaction-between-two-quantitative-trait-loci-with-%C3%AE-globin-expression-in-%C3%AE-thalassemia-intermedia-patients
#20
Shiva NickAria, Sezaneh Haghpanah, Mani Ramzi, Mehran Karimi
Globin switching is a significant factor on blood hemoglobin (Hb) level but its molecular mechanisms have not yet been identified, however, several quantitative trait loci (QTL) and polymorphisms involved regions on chromosomes 2p, 6q, 8q and X account for variation in the γ-globin expression level. We studied the effect of interaction between a region on intron six of the TOX gene, chromosome 8q (chr8q) and XmnI locus on the γ-globin promoter, chr11p on γ-globin expression in 150 β-thalassemia intermedia (β-TI) patients, evaluated by statistical interaction analysis...
May 10, 2018: Hemoglobin
keyword
keyword
47671
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"