The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly.

E Roessler, Y Du, A Glinka, A Dutra, C Niehrs, M Muenke
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引用次数: 29

Abstract

Holoprosencephaly (HPE) is the most common developmental defect of the brain and face in humans. Here we report the analysis of the human ortholog of dkk-1 as a candidate gene for HPE. We determined the genomic structure of the human gene DKK1 and mapped it to chromosome 10q11.2. Functional analysis of four missense mutations identified in HPE patients revealed preserved activity in head induction assays in frogs suggesting a limited role for this gene in HPE pathogenesis.

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作为前脑畸形候选基因的DKK1头部诱导基因的基因组结构、染色体定位和分析。
无前脑畸形(HPE)是人类大脑和面部最常见的发育缺陷。在这里,我们报告了作为HPE候选基因的dkk-1的人类同源性分析。我们确定了人类基因DKK1的基因组结构,并将其定位在染色体10q11.2上。对在HPE患者中发现的四种错义突变的功能分析显示,在青蛙的头部诱导试验中,该基因保留了活性,这表明该基因在HPE发病机制中的作用有限。
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