比利时鲁汶大学Peter Claes、美国斯坦福大学Joanna Wysocka、Sahin Naqvi研究团队合作在研究中取得进展。他们发现了人面部和大脑形状的共遗传性。这一研究成果发表在2021年4月5日出版的国际学术期刊《自然-遗传学》上。
研究人员对19,644个欧洲人进行了皮质表面形态多变量全基因组关联研究，确定了472个影响脑部形状的基因座，其中76个也与面部形状有关。共有的基因座包括参与颅面发育的转录因子，以及调控脑-面信号通路的成员。大脑形状的遗传在前脑类器官或面部祖细胞活跃的调节区域附近均等富集。
但是，研究人员没有发现共享的大脑-面部全基因组关联研究信号与影响行为-认知特征变异之间存在明显重叠。这些结果表明，在胚胎发生的早期，面部和大脑会通过结构效应和旁分泌信号传导相互塑造，但这种相互作用可能不会影响后来与认知功能相关的大脑发育。
据了解，来自模式生物和临床遗传学的证据表明大脑和面部发育之间存在协调关系，但是这种联系在常见遗传变异中的作用仍然未知。
附：英文原文
Title: Shared heritability of human face and brain shape
Author: Sahin Naqvi, Yoeri Sleyp, Hanne Hoskens, Karlijne Indencleef, Jeffrey P. Spence, Rose Bruffaerts, Ahmed Radwan, Ryan J. Eller, Stephen Richmond, Mark D. Shriver, John R. Shaffer, Seth M. Weinberg, Susan Walsh, James Thompson, Jonathan K. Pritchard, Stefan Sunaert, Hilde Peeters, Joanna Wysocka, Peter Claes
Issue&Volume: 2021-04-05
Abstract: Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown. We performed a multivariate genome-wide association study of cortical surface morphology in 19,644 individuals of European ancestry, identifying 472 genomic loci influencing brain shape, of which 76 are also linked to face shape. Shared loci include transcription factors involved in craniofacial development, as well as members of signaling pathways implicated in brain–face cross-talk. Brain shape heritability is equivalently enriched near regulatory regions active in either forebrain organoids or facial progenitors. However, we do not detect significant overlap between shared brain–face genome-wide association study signals and variants affecting behavioral–cognitive traits. These results suggest that early in embryogenesis, the face and brain mutually shape each other through both structural effects and paracrine signaling, but this interplay may not impact later brain development associated with cognitive function.
DOI: 10.1038/s41588-021-00827-w
Source: https://www.nature.com/articles/s41588-021-00827-w
Nature Genetics：《自然—遗传学》，创刊于1992年。隶属于施普林格·自然出版集团，最新IF：41.307
官方网址：https://www.nature.com/ng/
投稿链接：https://mts-ng.nature.com/cgi-bin/main.plex
本期文章：《自然—遗传学》：Online/在线发表
