Identification of microcephalin, a protein implicated in determining the size of the human brain
Identification of microcephalin, a protein implicated in determining the size of the human brain
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DOI：
10.1086/341283
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发表时间：
2002-07-01
影响因子：
9.8
通讯作者：
Woods, CG
中科院分区：
文献类型：
--
作者：
Jackson, AP;Eastwood, H;Woods, CG
原发性小头畸形(MIM 251200)是一种常染色体隐性遗传的神经发育疾病，其大脑皮层体积整体缩小，大小与早期原始人相当。我们先前将小头畸形症的MCPH1基因定位在8p23染色体上，并在此报告了在此区间内编码BRCA1 C末端结构域蛋白的基因在具有祖先8p23单倍型的MCPH1家族中发生突变。这种名为小脑磷脂的基因在胎儿大脑发育中的大脑皮层表达。对该基因及其相关基因的进一步研究可能会为新皮质的发育和进化提供重要的新见解。
Primary microcephaly (MIM 251200) is an autosomal recessive neurodevelopmental condition in which there is a global reduction in cerebral cortex volume, to a size comparable with that of early hominids. We previously mapped the MCPH1 locus, for primary microcephaly, to chromosome 8p23, and here we report that a gene within this interval, encoding a BRCA1 C-terminal domain-containing protein, is mutated in MCPH1 families sharing an ancestral 8p23 haplotype. This gene, microcephalin, is expressed in the developing cerebral cortex of the fetal brain. Further study of this and related genes may provide important new insights into neocortical development and evolution.