Genes that escape from X‐chromosome inactivation: Potential contributors to Klinefelter syndrome
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020 One of the two X chromosomes in females is epigenetically inactivated, thereby compensating for the dosage difference in X‐linked genes between XX females and XY males.
Maria Jose Navarro-Cobos +2 more
semanticscholar +1 more source
X-Chromosome Inactivation: A Crossroads Between Chromosome Architecture and Gene Regulation.
Annual Review of Genetics, 2018 In somatic nuclei of female therian mammals, the two X chromosomes display very different chromatin states: One X is typically euchromatic and transcriptionally active, and the other is mostly silent and forms a cytologically detectable heterochromatic ...
Rafael Galupa, E. Heard
semanticscholar +1 more source
Escape from X chromosome inactivation and female bias of autoimmune diseases
Molecular Medicine, 2020 Generally, autoimmune diseases are more prevalent in females than males. Various predisposing factors, including female sex hormones, X chromosome genes, and the microbiome have been implicated in the female bias of autoimmune diseases.
M. Mousavi, M. Mahmoudi, S. Ghotloo
semanticscholar +1 more source
Artificial escape from XCI by DNA methylation editing of the CDKL5 gene. [PDF]
, 2020 A significant number of X-linked genes escape from X chromosome inactivation and are associated with a distinct epigenetic signature. One epigenetic modification that strongly correlates with X-escape is reduced DNA methylation in promoter regions. Here,
Anderson, Johnathon D +14 more
core +1 more source
Demasculinization of the Anopheles gambiae X chromosome [PDF]
, 2012 Background: In a number of organisms sex-biased genes are non-randomly distributed between autosomes and the shared sex chromosome X (or Z). Studies on Anopheles gambiae have produced conflicting results regarding the underrepresentation of male-biased ...
Lycett, Gareth
core +1 more source
Hormad1 mutation disrupts synaptonemal complex formation, recombination, and chromosome segregation in mammalian meiosis [PDF]
, 2010 Meiosis is unique to germ cells and essential for reproduction. During the first meiotic division, homologous chromosomes pair, recombine, and form chiasmata.
Choi, Y +8 more
core +10 more sources
A family case of fertile human 45,X,psu dic(15;Y) males [PDF]
, 2006 We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M +29 more
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Altered X-chromosome inactivation in T cells may promote sex-biased autoimmune diseases.
JCI Insight, 2019 Systemic lupus erythematosus (SLE) is an autoimmune disorder that predominantly affects women and is driven by autoreactive T cell-mediated inflammation.
C. Syrett +8 more
semanticscholar +1 more source
Allele-specific expression analysis does not support sex chromosome inactivation on the chicken Z chromosome [PDF]
, 2017 Heterogametic sex chromosomes have evolved many times independently, and in many cases the loss of functional genes from the sex-limited Y or W chromosome leaves only one functional gene copy on the corresponding X or Z chromosome in the heterogametic ...
Li, J, Mank, JE, Qu, L, Wang, Q, Yang, N
core +1 more source
Systematic allelic analysis defines the interplay of key pathways in X chromosome inactivation
Nature Communications, 2018 Xist RNA, the master regulator of X chromosome inactivation, acts in cis to induce chromosome-wide silencing. Whilst recent studies have defined candidate silencing factors, their relative contribution to repressing different genes, and their ...
T. Nesterova +14 more
semanticscholar +1 more source