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位于Xq28假常染色体区域的一个类似突触小泡蛋白的基因会发生X染色体失活。

A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation.

作者信息

D'Esposito M, Ciccodicola A, Gianfrancesco F, Esposito T, Flagiello L, Mazzarella R, Schlessinger D, D'Urso M

机构信息

International Institute of Genetics and Biophysics, CNR, Naples, Italy.

出版信息

Nat Genet. 1996 Jun;13(2):227-9. doi: 10.1038/ng0696-227.

Abstract

The X and Y chromosomes that maintain human dimorphism are thought to have descended from a single progenitor, with the Y chromosome becoming largely depleted of genes. A number of genes, however, retain copies on both X and Y chromosomes and escape the inactivation that affects most X-linked genes in somatic cells. Many of those genes are present in two pseudoautosomal regions (PARs) at the termini of the short (p) and long (q) arms of the sex chromosomes. For both PARs, pairing facilitates the exchange of information, ensuring the homogenisation of X and Y chromosomal material in these regions. We report here a strikingly different regulation of expression of a gene in Xq PAR. Unlike all Xp PAR genes studied so far, a synaptobrevin-like gene, tentatively named SYBL1, undergoes X inactivation. In addition, it is also inactive on the Y chromosome, thereby maintaining dosage compensation in an unprecedented way.

摘要

维持人类两性差异的X和Y染色体被认为起源于单一的祖先,Y染色体上的基因大量减少。然而,有一些基因在X和Y染色体上都保留了拷贝,并逃脱了影响体细胞中大多数X连锁基因的失活过程。其中许多基因存在于性染色体短臂(p)和长臂(q)末端的两个假常染色体区域(PARs)。对于这两个PARs,配对促进了信息交换,确保了这些区域中X和Y染色体物质的同质化。我们在此报告了Xq PAR中一个基因表达的显著不同调控。与迄今为止研究的所有Xp PAR基因不同,一个类似突触融合蛋白的基因,暂命名为SYBL1,会发生X染色体失活。此外,它在Y染色体上也无活性,从而以前所未有的方式维持剂量补偿。

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