Developmental regulation of conserved non-coding element evolution provides insights into limb loss in squamates  

作　　者：Zeng Wang Changjun Peng Wei Wu Chaochao Yan Yunyun Lv Jia-Tang Li 

机构地区：[1]CAS Key Laboratory of Mountain Ecological Restoration and Bioresource Utilization&Ecological Restoration and Biodiversity Conservation Key Laboratory of Sichuan Province,Chengdu Institute of Biology,Chinese Academy of Sciences,Chengdu 610041,China [2]University of Chinese Academy of Sciences,Beijing 100049,China [3]College of Life Science,Neijiang Normal University,Neijiang 641100,China [4]Southeast Asia Biodiversity Research Institute,Chinese Academy of Sciences,Yezin Nay Pyi Taw 05282,Myanmar

出　　处：《Science China(Life Sciences)》2023年第10期2399-2414,共16页中国科学（生命科学英文版）

基　　金：the Strategic Priority Research Program of Chinese Academy of Sciences(XDB31000000);the National Natural Science Foundation of China(32220103004,32000296);the Second Tibetan Plateau Scientific Expedition and Research Program(2019QZKK0501);the International Partnership Program of Chinese Academy of Sciences(151751KYSB20190024);the Sichuan Science and Technology Program(2021JDJQ0002)。

摘　　要：Limb loss shows recurrent phenotypic evolution across squamate lineages.Here,based on three de novo-assembled genomes of limbless lizards from different lineages,we showed that divergence of conserved non-coding elements(CNEs)played an important role in limb development.These CNEs were associated with genes required for limb initiation and outgrowth,and with regulatory signals in the early stage of limb development.Importantly,we identified the extensive existence of insertions and deletions(In Dels)in the CNEs,with the numbers ranging from 111 to 756.Most of these CNEs with In Dels were lineagespecific in the limbless squamates.Nearby genes of these In Del CNEs were important to early limb formation,such as Tbx4,Fgf10,and Gli3.Based on functional experiments,we found that nucleotide mutations and In Dels both affected the regulatory function of the CNEs.Our study provides molecular evidence underlying limb loss in squamate reptiles from a developmental perspective and sheds light on the importance of regulatory element In Dels in phenotypic evolution.

关 键 词：squamates limb loss cis-regulatory elements early limb development 

分 类 号：Q95[生物学—动物学]