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定位于4p16.3/D4S90的锌指基因ZNF141是Wolf-Hirschhorn(4p-)综合征的候选基因。

A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome.

作者信息

Tommerup N, Aagaard L, Lund C L, Boel E, Baxendale S, Bates G P, Lehrach H, Vissing H

机构信息

Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup.

出版信息

Hum Mol Genet. 1993 Oct;2(10):1571-5. doi: 10.1093/hmg/2.10.1571.

Abstract

Chromosomal aneusomy is a major cause of reproductive wastage and congenital malformations in man. Zinc finger encoding genes would be good candidates for being involved in the multiple developmental defects associated with chromosomal aneusomy--by virtue of their role as transcriptional regulators, their abundance in the genome and their known association with specific developmental disorders. We have isolated and mapped a zinc finger encoding cDNA (ZNF141) of the C2-H2/KRAB subfamily to the 4p- (Wolf-Hirschhorn) syndrome (WHS) chromosome region. ZNF141 mapped to the distal end of the 2.2 Mb smallest region of deletion overlap of WHS, 300 kb from the 4p telomere on cosmid CD1 defining the anonymous locus D4S90. ZNF141 was expressed ubiquitously at low levels in the analysed tissue. The identification of a candidate gene for a chromosomal aneusomy syndrome belonging to a class of evolutionary conserved genes will provide options for studying its normal and abnormal expression during mammalian embryogenesis.

摘要

染色体非整倍性是人类生殖失败和先天性畸形的主要原因。由于锌指编码基因作为转录调节因子的作用、在基因组中的丰富性以及它们与特定发育障碍的已知关联,它们很可能参与了与染色体非整倍性相关的多种发育缺陷。我们已经分离并将一个C2-H2/KRAB亚家族的锌指编码cDNA(ZNF141)定位到4p-(沃尔夫-赫希霍恩)综合征(WHS)染色体区域。ZNF141定位于WHS最小缺失重叠区域2.2 Mb的远端,距离定义无名位点D4S90的粘粒CD1上的4p端粒300 kb。ZNF141在所分析的组织中普遍低水平表达。鉴定出一个属于进化保守基因类别的染色体非整倍性综合征候选基因,将为研究其在哺乳动物胚胎发育过程中的正常和异常表达提供选择。

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