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发育与疾病中的ZIC基因家族

The ZIC gene family in development and disease.

作者信息

Grinberg I, Millen K J

机构信息

Department of Human Genetics, The University of Chicago, Chicago, IL, USA.

出版信息

Clin Genet. 2005 Apr;67(4):290-6. doi: 10.1111/j.1399-0004.2005.00418.x.

Abstract

The human ZIC gene family is comprised of five members encoding zinc-finger transcription factors, which are the vertebrate homologs of the Drosophila odd-paired gene. Mutations in ZIC genes in humans have recently been implicated in a wide variety of congenital malformations, including Dandy-Walker malformation, holoprosencephaly, neural tube defects, and heterotaxy. Mutant analysis of these genes in mice has underscored the conserved developmental roles of these genes. Further, this analysis has begun to elucidate the molecular and developmental mechanisms underlying these important birth defects.

摘要

人类ZIC基因家族由五个成员组成,它们编码锌指转录因子,是果蝇odd-paired基因在脊椎动物中的同源物。最近发现,人类ZIC基因的突变与多种先天性畸形有关,包括丹迪-沃克畸形、前脑无裂畸形、神经管缺陷和内脏异位。对小鼠中这些基因的突变分析强调了这些基因在发育过程中的保守作用。此外,该分析已开始阐明这些重要出生缺陷背后的分子和发育机制。

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