Sex chromosome positions in human interphase nuclei as studied by in situ hybridization with chromosome specific DNA probes [PDF]
, 1984 Two cloned repetitive DNA probes, pXBR and CY1, which bind preferentially to specific regions of the human X and Y chromosome, respectively, were used to study the distribution of the sex chromosomes in human lymphocyte nuclei by in situ hybridization ...
C. R. M�ller +30 more
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Enhanced chromatin accessibility contributes to X chromosome dosage compensation in mammals
Genome Biology, 2021 Background Precise gene dosage of the X chromosomes is critical for normal development and cellular function. In mice, XX female somatic cells show transcriptional X chromosome upregulation of their single active X chromosome, while the other X ...
Irene Talon +13 more
doaj +1 more source
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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X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies. [PDF]
BMC GenomicsShriner D +8 more
europepmc +2 more sources
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
, 2015 Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J +13 more
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Current Biology, 2008 I'd like to thank Catherine Montchamp-Moreau and Yun Tao for helpful comments on the manuscript.
openaire +2 more sources
Differences of size and shape of active and inactive X-chromosome domains in human amniotic fluid cell nuclei [PDF]
, 1993 It is a widely held belief that the inactive X-chromosome (Xi) in female cell nuclei is strongly condensed as compared to the largely decondensed active X-chromosome (Xa).
Barr +39 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
doaj +1 more source
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
Nature Communications, 2016 It is unclear how often genetic mosaicism of chromosome X arises. Here, the authors examine women with cancer and cancer-free controls and show that X chromosome mosaicism occurs more frequently than on autosomes, especially on the inactive X chromosome,
Mitchell J. Machiela +175 more
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Massive gene amplification on a recently formed Drosophila Y chromosome. [PDF]
, 2019 Widespread loss of genes on the Y is considered a hallmark of sex chromosome differentiation. Here we show that the initial stages of Y evolution are driven by massive amplification of distinct classes of genes. The neo-Y chromosome of Drosophila miranda
Bachtrog, Doris +2 more
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