Dobson-Stone C, Gatt J M, Kuan S A, Grieve S M, Gordon E, Williams L M, Schofield P R
Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Neuroimage. 2007 Aug 15;37(2):394-400. doi: 10.1016/j.neuroimage.2007.05.011. Epub 2007 May 18.
Loss-of-function mutations in MCPH1 and ASPM are responsible for some cases of autosomal recessive primary microcephaly. Recent studies have indicated that certain common variants of these genes have been positively selected for during the evolution of modern humans. It is therefore possible that these variants may predispose to an increase in brain size in the normal human population. We genotyped the MCPH1 G37995C and ASPM A44871G polymorphisms in a cohort of 118 healthy people who had undergone structural magnetic resonance imaging analysis. We did not detect significant association of either MCPH1 G37995C or ASPM A44871G genotype with whole brain volume, cerebral cortical volume or proportion of grey matter in this cohort. Nor did we detect an association of combined MCPH1 37995C and ASPM 44871G allele dosage with these brain measurements. These results were also confirmed in an age-restricted subcohort of 94 individuals. This study suggests that phenotypes other than brain size may have been selected for in ASPM and MCPH1 variants during evolution of modern humans.
MCPH1和ASPM的功能丧失突变是某些常染色体隐性原发性小头畸形病例的病因。最近的研究表明，这些基因的某些常见变异在现代人类进化过程中受到了正向选择。因此，这些变异可能会使正常人群的脑容量增加。我们对118名接受过结构磁共振成像分析的健康人群进行了MCPH1 G37995C和ASPM A44871G多态性基因分型。在该队列中，我们未检测到MCPH1 G37995C或ASPM A44871G基因型与全脑体积、大脑皮质体积或灰质比例之间存在显著关联。我们也未检测到MCPH1 37995C和ASPM 44871G等位基因剂量组合与这些脑测量值之间存在关联。这些结果在一个由94名个体组成的年龄受限亚组中也得到了证实。这项研究表明，在现代人类进化过程中，除脑容量外的其他表型可能在ASPM和MCPH1变异中受到了选择。
