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Sex chromosomes

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https://www.readbyqxmd.com/read/29352271/sex-disparity-in-cancer-roles-of-micrornas-and-related-functional-players
#1
REVIEW
Alessandra Carè, Maria Bellenghi, Paola Matarrese, Lucia Gabriele, Stefano Salvioli, Walter Malorni
A sexual dimorphism at the cellular level has been suggested to play a role in cancer onset and progression. In particular, very recent studies have unraveled striking differences between cells carrying XX or XY chromosomes in terms of response to stressful stimuli, indicating the presence of genetic and epigenetic differences determining sex-specific metabolic or phenotypic traits. Although this field of investigation is still in its infancy, available data suggest a key role of sexual chromosomes in determining cell life or death...
January 19, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29348612/gwas-in-childhood-acute-lymphoblastic-leukemia-reveals-novel-genetic-associations-at-chromosomes-17q12-and-8q24-21
#2
Joseph L Wiemels, Kyle M Walsh, Adam J de Smith, Catherine Metayer, Semira Gonseth, Helen M Hansen, Stephen S Francis, Juhi Ojha, Ivan Smirnov, Lisa Barcellos, Xiaorong Xiao, Libby Morimoto, Roberta McKean-Cowdin, Rong Wang, Herbert Yu, Josephine Hoh, Andrew T DeWan, Xiaomei Ma
Childhood acute lymphoblastic leukemia (ALL) (age 0-14 years) is 20% more common in Latino Americans than non-Latino whites. We conduct a genome-wide association study in a large sample of 3263 Californian children with ALL (including 1949 of Latino heritage) and 3506 controls matched on month and year of birth, sex, and ethnicity, and an additional 12,471 controls from the Kaiser Resource for Genetic Epidemiology Research on Aging Cohort. Replication of the strongest genetic associations is performed in two independent datasets from the Children's Oncology Group and the California Childhood Leukemia Study...
January 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29345015/dynamic-sex-chromosomes-in-old-world-chameleons-squamata-chamaeleonidae
#3
S V Nielsen, J L Banks, R E Diaz, P A Trainor, T Gamble
Much of our current state of knowledge concerning sex chromosome evolution is based on a handful of 'exceptional' taxa with heteromorphic sex chromosomes. However, classifying the sex chromosome systems of additional species lacking easily identifiable, heteromorphic sex chromosomes is indispensible if we wish to fully understand the genesis, degeneration, and turnover of vertebrate sex chromosomes. Squamate reptiles (lizards and snakes) are a potential model clade for studying sex chromosome evolution as they exhibit a suite of sex determining modes yet most species lack heteromorphic sex chromosomes...
January 18, 2018: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/29344091/the-correlation-between-gain-of-chromosome-8q-and-survival-in-patients-with-clear-and-papillary-renal-cell-carcinoma
#4
Reza Mehrazin, Essel Dulaimi, Robert G Uzzo, Karthik Devarjan, Jianming Pei, Marc C Smaldone, Alexander Kutikov, Joseph R Testa, Tahseen Al-Saleem
Background: The proto-oncogene c-MYC, located on chromosome 8q, can be upregulated through gain of 8q, causing alteration in biology of renal cell carcinoma (RCC). The aim of this study was to evaluate the prevalence of c-MYC through chromosome 8q gain and to correlate findings with cancer-specific mortality (CSM), and overall survival (OS). Methods: Cytogenetic analysis by conventional or Chromosomal Genomic Microarray Analysis (CMA) was performed on 414 renal tumors...
January 2018: Therapeutic Advances in Urology
https://www.readbyqxmd.com/read/29339108/phenotype-in-girls-and-women-with-turner-syndrome-association-between-dysmorphic-features-karyotype-and-cardio-aortic-malformations
#5
Iris Noordman, Anthonie Duijnhouwer, Livia Kapusta, Marlies Kempers, Nel Roeleveld, Michiel Schokking, Dominique Smeets, Kim Freriks, Henri Timmers, Janiëlle van Alfen-van der Velden
INTRODUCTION: Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations...
January 12, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29338681/the-evolutionary-process-of-mammalian-sex-determination-genes-focusing-on-marsupial-srys
#6
Yukako Katsura, Hiroko X Kondo, Janelle Ryan, Vincent Harley, Yoko Satta
BACKGROUND: Maleness in mammals is genetically determined by the Y chromosome. On the Y chromosome SRY is known as the mammalian male-determining gene. Both placental mammals (Eutheria) and marsupial mammals (Metatheria) have SRY genes. However, only eutherian SRY genes have been empirically examined by functional analyses, and the involvement of marsupial SRY in male gonad development remains speculative. RESULTS: In order to demonstrate that the marsupial SRY gene is similar to the eutherian SRY gene in function, we first examined the sequence differences between marsupial and eutherian SRY genes...
January 16, 2018: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/29337080/smc1%C3%AE-substitutes-for-many-meiotic-functions-of-smc1%C3%AE-but-cannot-protect-telomeres-from-damage
#7
Uddipta Biswas, Michelle Stevense, Rolf Jessberger
The cohesin complex is built upon the SMC1/SMC3 heterodimer, and mammalian meiocytes feature two variants of SMC1 named SMC1α and SMC1β. It is unclear why these two SMC1 variants have evolved. To determine unique versus redundant functions of SMC1β, we asked which of the known functions of SMC1β can be fulfilled by SMC1α. Smc1α was expressed under control of the Smc1β promoter in either wild-type or SMC1β-deficient mice. No effect was seen in the former. However, several major phenotypes of SMC1β-deficient spermatocytes were rescued by SMC1α...
January 10, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29336481/the-unguarded-x-and-the-genetic-architecture-of-lifespan-inbreeding-results-in-a-potentially-maladaptive-sex-specific-reduction-of-female-lifespan-in-drosophila-melanogaster
#8
Zahida Sultanova, Muhammed Andic, Pau Carazo
Sex differences in ageing and lifespan are ubiquitous in nature. The "unguarded-X" hypothesis (UXh) suggests they may be partly due to the expression of recessive mutations in the hemizygous sex chromosomes of the heterogametic sex, which could help explain sex-specific ageing in a broad array of taxa. A prediction central to the UX hypothesis is that inbreeding will decrease the lifespan of the homogametic sex more than the heterogametic sex, because only in the former does inbreeding increase the expression of recessive deleterious mutations...
January 16, 2018: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/29335574/sexual-antagonism-and-the-instability-of-environmental-sex-determination
#9
Pavitra Muralidhar, Carl Veller
The sex of an organism can be determined by its genetics or its early environment. Across the animal kingdom, genetic sex determination (GSD) is far more common than environmental sex determination (ESD). Here, we propose an explanation for this pattern: the coupling of genes that bias offspring sex ratios towards one sex with genes that are beneficial in that sex but costly in the other. Gradual strengthening of the sex-specific tendency of this association eventuates in a neo-sex chromosome; that is, GSD...
January 15, 2018: Nature Ecology & Evolution
https://www.readbyqxmd.com/read/29335572/variation-and-constraints-in-hybrid-genome-formation
#10
Anna Runemark, Cassandra N Trier, Fabrice Eroukhmanoff, Jo S Hermansen, Michael Matschiner, Mark Ravinet, Tore O Elgvin, Glenn-Peter Sætre
Hybridization is an important source of variation; it transfers adaptive genetic variation across species boundaries and generates new species. Yet, the limits to viable hybrid genome formation are poorly understood. Here we investigated to what extent hybrid genomes are free to evolve by sequencing the genomes of four island populations of the homoploid hybrid Italian sparrow Passer italiae. We report that a variety of novel and fully functional hybrid genomic combinations are likely to have arisen independently on Crete, Corsica, Sicily and Malta, with differentiation in candidate genes for beak shape and plumage colour...
January 15, 2018: Nature Ecology & Evolution
https://www.readbyqxmd.com/read/29335026/congenital-anomalies-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#11
Jussi Leppävirta, Roope A Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen
BACKGROUND: Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall incidence of anomalies is unknown. In this retrospective register-based total population study conducted in Finland, the congenital anomalies in NF1 were evaluated. METHODS: One thousand four hundred ten patients with NF1 were identified by searching the medical records related to inpatient and outpatient hospital visits of patients with an associated diagnosis for NF1 in 1987-2011...
January 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29335024/sex-differences-in-the-late-first-trimester-human-placenta-transcriptome
#12
Tania L Gonzalez, Tianyanxin Sun, Alexander F Koeppel, Bora Lee, Erica T Wang, Charles R Farber, Stephen S Rich, Lauren W Sundheimer, Rae A Buttle, Yii-Der Ida Chen, Jerome I Rotter, Stephen D Turner, John Williams, Mark O Goodarzi, Margareta D Pisarska
BACKGROUND: Development of the placenta during the late first trimester is critical to ensure normal growth and development of the fetus. Developmental differences in this window such as sex-specific variation are implicated in later placental disease states, yet gene expression at this time is poorly understood. METHODS: RNA-sequencing was performed to characterize the transcriptome of 39 first trimester human placentas using chorionic villi following genetic testing (17 females, 22 males)...
January 15, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#13
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29330774/a-collection-of-xy-female-cell-lines
#14
Fumio Kasai, Malcolm A Ferguson-Smith
Discordance between sexual phenotype and the 46,XY sex chromosome complement may be found in certain disorders of sexual development (DSD). Many of these DSD patients with female external genitalia and secondary sex characteristics have undescended testes and male internal genitalia. Causative mutations involving genes of the sex determining pathway, including the androgen receptor, SRY and the 5-alpha-reductase genes, are well-known, but the origin of other cases remain unresolved. In this report, we introduce our collection of lymphoblastoid lines derived from female patients with a 46,XY karyotype...
January 12, 2018: Human Cell
https://www.readbyqxmd.com/read/29330548/shox-haploinsufficiency-presenting-with-isolated-short-long-bones-in-the-second-and-third-trimester
#15
Shwetha Ramachandrappa, Abhijit Kulkarni, Hina Gandhi, Cheryl Ellis, Renata Hutt, Lesley Roberts, Rosol Hamid, Aris Papageorghiou, Sahar Mansour
Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal. The molecular basis of SHOX haploinsufficiency was distinct in each case...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29329524/uncovering-the-evolutionary-history-of-neo-xy-sex-chromosomes-in-the-grasshopper-ronderosia-bergii-orthoptera-melanoplinae-through-satellite-dna-analysis
#16
Octavio M Palacios-Gimenez, Diogo Milani, Bernardo Lemos, Elio R Castillo, Dardo A Martí, Erica Ramos, Cesar Martins, Diogo C Cabral-de-Mello
BACKGROUND: Neo-sex chromosome systems arose independently multiple times in evolution, presenting the remarkable characteristic of repetitive DNAs accumulation. Among grasshoppers, occurrence of neo-XY was repeatedly noticed in Melanoplinae. Here we analyzed the most abundant tandem repeats of R. bergii (2n = 22, neo-XY♂) using deep Illumina sequencing and graph-based clustering in order to address the neo-sex chromosomes evolution. RESULTS: The analyses revealed ten families of satDNAs comprising about ~1% of the male genome, which occupied mainly C-positive regions of autosomes...
January 8, 2018: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/29329290/morc2b-is-essential-for-meiotic-progression-and-fertility
#17
Baolu Shi, Jiangyang Xue, Jian Zhou, Seth D Kasowitz, Yuanwei Zhang, Guanxiang Liang, Yongjuan Guan, Qinghua Shi, Mingxi Liu, Jiahao Sha, Xiaoyan Huang, P Jeremy Wang
The microrchidia (MORC) family proteins are chromatin-remodelling factors and function in diverse biological processes such as DNA damage response and transposon silencing. Here, we report that mouse Morc2b encodes a functional germ cell-specific member of the MORC protein family. Morc2b arose specifically in the rodent lineage through retrotransposition of Morc2a during evolution. Inactivation of Morc2b leads to meiotic arrest and sterility in both sexes. Morc2b-deficient spermatocytes and oocytes exhibit failures in chromosomal synapsis, blockades in meiotic recombination, and increased apoptosis...
January 12, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29328538/conflict-between-heterozygote-advantage-and-hybrid-incompatibility-in-haplodiploids-and-sex-chromosomes
#18
Ana-Hermina Ghenu, Alexandre Blanckaert, Roger K Butlin, Jonna Kulmuni, Claudia Bank
In many diploid species the sex chromosomes play a special role in mediating reproductive isolation. In haplodiploids, where females are diploid and males haploid, the whole genome behaves similarly to the X/Z chromosomes of diploids. Therefore, haplodiploid systems can serve as a model for the role of sex chromosomes in speciation and hybridization. A previously described population of Finnish Formica wood ants displays genome-wide signs of ploidally and sexually antagonistic selection resulting from hybridization...
January 12, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29325624/sex-chromosome-aneuploidies
#19
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325078/genomic-basis-of-recombination-suppression-in-the-hybrid-between-caenorhabditis-briggsae-and-c-nigoni
#20
Xiaoliang Ren, Runsheng Li, Xiaolin Wei, Yu Bi, Vincy Wing Sze Ho, Qiutao Ding, Zhichao Xu, Zhihong Zhang, Chia-Ling Hsieh, Amanda Young, Jianyang Zeng, Xiao Liu, Zhongying Zhao
DNA recombination is required for effective segregation and diversification of genomes and for the successful completion of meiosis. Recent studies in various species hybrids have demonstrated a genetic link between DNA recombination and speciation. Consistent with this, we observed a striking suppression of recombination in the hybrids between two nematodes, the hermaphroditic Caenorhabditis briggsae and the gonochoristic C. nigoni. To unravel the molecular basis underlying the recombination suppression in their hybrids, we generated a C...
January 9, 2018: Nucleic Acids Research
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