Jackson Andrew P, Eastwood Helen, Bell Sandra M, Adu Jimi, Toomes Carmel, Carr Ian M, Roberts Emma, Hampshire Daniel J, Crow Yanick J, Mighell Alan J, Karbani Gulshan, Jafri Hussain, Rashid Yasmin, Mueller Robert F, Markham Alexander F, Woods C Geoffrey
Molecular Medicine Unit, University of Leeds, United Kingdom.
Am J Hum Genet. 2002 Jul;71(1):136-42. doi: 10.1086/341283. Epub 2002 Jun 3.
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.
原发性小头畸形（MIM 251200）是一种常染色体隐性神经发育疾病，其大脑皮质体积整体减小，减小后的尺寸与早期原始人类相当。我们之前已将原发性小头畸形的MCPH1基因座定位于8号染色体短臂23区，在此我们报告，在共享8号染色体短臂23区祖先单倍型的MCPH1家族中，该区间内一个编码含BRCA1 C末端结构域蛋白的基因发生了突变。这个名为小头畸形基因的基因在胎儿大脑发育中的大脑皮质中表达。对该基因及相关基因的进一步研究可能会为新皮质发育和进化提供重要的新见解。
