While looking for genetic causes of microcephaly, a study done by Rodriguez, Sanchez-Moran et al (2019) found a missense mutation p.Asp187Gly in Cdh1/Fzr1) that was determined to be the cause of the microcephaly in a 4 year old patient. The heterozygous mutation was de novo and the authors state that it is "intriguing" that such a simple change had such drastic effects. Experiments on mice showed that this missense mutation causes the loss of function in APC/C (anaphase-promoting complex/cyclosome) which causes impairment of neurogenesis leading to microcephaly. APC/C-Cdh1 is specifically involved in axon growth, synapses, and has been linked to functions involving learning and memory. This study claims that Cdh1 is now a strong candidate for being involved in the evolution of human cortical brain size and expanded intelligence, although this particular study never mentioned whether there were differences in the sequence between modern humans, extinct hominins with available genetic data, and other extant primates.
-Alexis W. potluck 3/3/20
https://onlinelibrary-wiley-com.proxygw.wrlc.org/doi/full/10.1111/jnc.14835
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