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X chromosome inactivation, X-linked disorders, and cancer [PDF]
Frontiers in GeneticsX chromosome inactivation is an essential process that compensates for gene dosage differences between men and women. During early embryogenesis, one of the two X chromosomes in females is randomly selected for transcriptional silencing, inactivating ...
Consuelo Salas-Labadía +6 more
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X chromosome inactivation during Drosophila spermatogenesis. [PDF]
PLoS Biology, 2007 Genes with male- and testis-enriched expression are under-represented on the Drosophila melanogaster X chromosome. There is also an excess of retrotransposed genes, many of which are expressed in testis, that have "escaped" the X chromosome and moved to ...
Winfried Hense +2 more
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X-chromosome inactivation and escape [PDF]
Journal of Genetics, 2015 X-chromosome inactivation, which was discovered by Mary Lyon in 1961 results in random silencing of one X chromosome in female mammals. This review is dedicated to Mary Lyon, who passed away last year. She predicted many of the features of X inactivation, for e.g., the existence of an X inactivation center, the role of L1 elements in spreading of ...
Christine Distèche +2 more
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Evidence of influence of genomic DNA sequence on human X chromosome inactivation. [PDF]
PLoS Computational Biology, 2006 A significant number of human X-linked genes escape X chromosome inactivation and are thus expressed from both the active and inactive X chromosomes. The basis for escape from inactivation and the potential role of the X chromosome primary DNA sequence ...
Zhong Wang +3 more
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Population variability in X-chromosome inactivation across 10 mammalian species [PDF]
Nature CommunicationsOne of the two X-chromosomes in female mammals is epigenetically silenced in embryonic stem cells by X-chromosome inactivation. This creates a mosaic of cells expressing either the maternal or the paternal X allele.
Jonathan M. Werner +2 more
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Cell Reports, 2019 Summary: Neural tube defects (NTDs) are common birth defects in humans and show an unexplained female bias. Female mice lacking the tumor suppressor p53 display NTDs with incomplete penetrance. We found that the combined loss of pro-apoptotic BIM and p53
Alex R.D. Delbridge +21 more
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A Comparative Analysis of Mouse Imprinted and Random X-Chromosome Inactivation [PDF]
EpigenomesThe mammalian sexes are distinguished by the X and Y chromosomes. Whereas males harbor one X and one Y chromosome, females harbor two X chromosomes.
Rebecca M. Malcore, Sundeep Kalantry
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IndiSPENsable for X Chromosome Inactivation and Gene Silencing [PDF]
Epigenomes, 2023 For about 30 years, SPEN has been the subject of research in many different fields due to its variety of functions and its conservation throughout a wide spectrum of species, like worms, arthropods, and vertebrates.
Corinne Kaufmann, Anton Wutz
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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation [PDF]
Frontiers in GeneticsObjectivesHemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. Women are usually asymptomatic carriers, and rarely presenting with severe or moderately severe phenotype.
Xiaoyan Tan +7 more
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Selection of X-chromosome Inactivation Model
Cancer Informatics, 2017 To address the complexity of the X-chromosome inactivation (XCI) process, we previously developed a unified approach for the association test for X-chromosomal single-nucleotide polymorphisms (SNPs) and the disease of interest, accounting for different ...
Jian Wang, Rajesh Talluri, Sanjay Shete
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