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

被引：23

作者：

Roessler, E

Du, Y

Glinka, A

Dutra, A

Niehrs, C

Muenke, M

机构：

[1] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[2] Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA

[3] Childrens Hosp Philadelphia, Dept Genet, Philadelphia, PA 19104 USA

[4] Childrens Hosp Philadelphia, Dept Neurol, Philadelphia, PA 19104 USA

[5] Deutsch Krebsforschungszentrum, Div Mol Embryol, Heidelberg, Germany

[6] NHGRI, Med Genet Branch, Cytogenet & Confocal Microscopy Core, Bethesda, MD 20892 USA

来源：

CYTOGENETICS AND CELL GENETICS | 2000年 / 89卷 / 3-4期

关键词：

D O I：

10.1159/000015618

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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, Copyright (C) 2000 S. Karger AG, Basel.

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页码：220 / 224

页数：5

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