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性染色体非整倍体的认知、行为及神经方面的后果。

Cognitive, behavioral, and neural consequences of sex chromosome aneuploidy.

作者信息

Printzlau Frida, Wolstencroft Jeanne, Skuse David H

机构信息

Great Ormond Street Hospital Institute of Child Health, University College London, United Kingdom.

出版信息

J Neurosci Res. 2017 Jan 2;95(1-2):311-319. doi: 10.1002/jnr.23951.

DOI:10.1002/jnr.23951
PMID:27870409
Abstract

The X chromosome has played a critical role in the development of sexually selected characteristics for over 300 million years, and during that time it has accumulated a disproportionate number of genes concerned with mental functions. There are relatively specific effects of X-linked genes on social cognition, language, emotional regulation, visuospatial, and numerical skills. Many human X-linked genes outside the X-Y pairing pseudoautosomal regions escape X-inactivation. Dosage differences in the expression of such genes (which constitute at least 15% of the total) are likely to play an important role in male-female neural differentiation, and in cognitive deficits and behavioral characteristics, particularly in the realm of social communication, that are associated with sex chromosome aneuploidies. © 2016 Wiley Periodicals, Inc.

摘要

在超过3亿年的时间里,X染色体在性选择特征的发育过程中发挥了关键作用,在此期间,它积累了数量不成比例的与心理功能相关的基因。X连锁基因对社会认知、语言、情绪调节、视觉空间和数字技能有相对特定的影响。许多位于X-Y配对假常染色体区域之外的人类X连锁基因逃避X染色体失活。这类基因(至少占总数的15%)表达上的剂量差异可能在男女神经分化以及与性染色体非整倍体相关的认知缺陷和行为特征(尤其是在社会交流领域)中起重要作用。© 2016威利期刊公司

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