Topic
X chromosome
About: X chromosome is a research topic. Over the lifetime, 9862 publications have been published within this topic receiving 407354 citations. The topic is also known as: GO:0000805 & chrX.
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578 citations
Wellcome Trust Sanger Institute1, University of Cambridge2, University of Cape Town3, Radboud University Nijmegen4, Katholieke Universiteit Leuven5, University of Paris6, François Rabelais University7, Max Planck Society8, Guy's and St Thomas' NHS Foundation Trust9, Royal Hospital for Sick Children10, Boston Children's Hospital11, University of Adelaide12
TL;DR: The coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR) are sequenced, the largest direct screen for constitutional disease-causing mutations thus far reported.
Abstract: Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far reported. The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence.
558 citations
TL;DR: Findings support the hypothesis that H4 molecules acetylated at particular sites mediate unique and specific effects on chromatin function.
558 citations
TL;DR: Results show that DAX1 is largely, if not solely, responsible for dosage-sensitive sex reversal and provide a model for early events in mammalian sex determination, when precise levels and timing of gene expression are critical.
Abstract: DAX1, which encodes an unusual member of the nuclear hormone-receptor superfamily, is a gene that may be responsible for a sex-reversal syndrome in humans, referred to as dosage-sensitive sex reversal, in which XY individuals carrying duplications of Xp21, part of the small arm of the X chromosome, develop as females. XY mice carrying extra copies of mouse Dax1 as a transgene show delayed testis development when the gene is expressed at high levels, but do not normally show sex reversal. Complete sex reversal occurs, however, when the transgene is tested against weak alleles of the sex-determining Y-chromosome gene Sry. These results show that DAX1 is largely, if not solely, responsible for dosage-sensitive sex reversal and provide a model for early events in mammalian sex determination, when precise levels and timing of gene expression are critical.
544 citations
Journal Article•
TL;DR: It is reported that mice carrying a targeted disruption of the PARP‐2 gene are sensitive to ionizing radiation, and specific female embryonic lethality is observed in parp‐1+/−parp‐2−/− mutants at E9.5.
534 citations