Can a few non-coding mutations make a human brain?

BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology
Lucía F Franchini, Katherine S Pollard

Abstract

The recent finding that the human version of a neurodevelopmental enhancer of the Wnt receptor Frizzled 8 (FZD8) gene alters neural progenitor cell cycle timing and brain size is a step forward to understanding human brain evolution. The human brain is distinctive in terms of its cognitive abilities as well as its susceptibility to neurological disease. Identifying which of the millions of genomic changes that occurred during human evolution led to these and other uniquely human traits is extremely challenging. Recent studies have demonstrated that many of the fastest evolving regions of the human genome function as gene regulatory enhancers during embryonic development and that the human-specific mutations in them might alter expression patterns. However, elucidating molecular and cellular effects of sequence or expression pattern changes is a major obstacle to discovering the genetic bases of the evolution of our species. There is much work to do before human-specific genetic and genomic changes are linked to complex human traits.

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Citations

Oct 26, 2016·Current Biology : CB·Wolfgang Enard
Oct 4, 2017·BMC Biology·Lucía F Franchini, Katherine S Pollard
Jul 31, 2019·Molecular Biology and Evolution·Alfredo Leandro CaporaleLucía Florencia Franchini
Nov 29, 2020·Science Advances·Jialin Liu, Marc Robinson-Rechavi
Mar 7, 2021·Insects·Elise J FarleyMichelle M Riehle
Sep 3, 2017·Seminars in Cell & Developmental Biology·Caitlyn Mitchell, Debra L Silver

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Methods Mentioned

BETA
transgenic

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