Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

生物 脊椎动物 斑马鱼 纤毛 运动纤毛 遗传学 基因 进化生物学
作者
Emmanuelle Szenker‐Ravi,Tim Ott,Muznah Khatoo,Anne Moreau de Bellaing,Wei Xuan Goh,Yan Ling Chong,Anja Beckers,Darshini Kannesan,G. Louvel,Priyanka Anujan,Vydianathan Ravi,Carine Bonnard,Sébastien Moutton,Patric Schoen,Mélanie Fradin,Estelle Colin,André Megarbané,Linda Daou,Ghassan Chéhab,Sylvie Di Filippo
出处
期刊:Nature Genetics [Nature Portfolio]
卷期号:54 (1): 62-72 被引量:33
标识
DOI:10.1038/s41588-021-00970-4
摘要

The vertebrate left–right axis is specified during embryogenesis by a transient organ: the left–right organizer (LRO). Species including fish, amphibians, rodents and humans deploy motile cilia in the LRO to break bilateral symmetry, while reptiles, birds, even-toed mammals and cetaceans are believed to have LROs without motile cilia. We searched for genes whose loss during vertebrate evolution follows this pattern and identified five genes encoding extracellular proteins, including a putative protease with hitherto unknown functions that we named ciliated left–right organizer metallopeptidase (CIROP). Here, we show that CIROP is specifically expressed in ciliated LROs. In zebrafish and Xenopus, CIROP is required solely on the left side, downstream of the leftward flow, but upstream of DAND5, the first asymmetrically expressed gene. We further ascertained 21 human patients with loss-of-function CIROP mutations presenting with recessive situs anomalies. Our findings posit the existence of an ancestral genetic module that has twice disappeared during vertebrate evolution but remains essential for distinguishing left from right in humans. Phylogenomic and genetic analyses identify an ancestral module of genes expressed specifically in ciliated left–right organizer tissue and required for left–right axis specification in humans and certain vertebrates.
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