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[X chromosome].

Authors: Alain, Verloes;

[X chromosome].

Abstract

X and Y chromosomes hove evolved from a common proto-chromosome, 300 million years ago. They shore 29 genes, scottered in two homologous regions (PAR1 and PAR2). Ten per cent of humon genetic diseases result from mutations of X-linked genes. Disorders with mental handicap, muscle involvement or infertility ore overrepresented. X chromosome inactivation is a complex epigenetic process. This mechanism keeps a single transcriptionally active chromosome per cell. At fecondotion, in XX embryo, the active X is always the maternal one, with the paternal X is kept inactive. At the time of implantation of a XX egg, inactivation is erased and reinstalled at random in the embryo, except in the germinal cell line, where both X remain inactive, and in placenta, where only the maternal X is expressed. Skewed inactivation of a X in a woman may indicate the presence of a mutated gene on the inactive X. Contrasting with outosomal disorders, the difference between recessivity and dominance is often relative, as heterozygous women con disclose a phenotype comparable to affected males, as a result of random X inactivation.

Keywords

Chromosomes, Human, X, X Chromosome Inactivation, Humans, Female, Genetic Diseases, X-Linked

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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Average
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