Evolutionary analysis of FAM83H in vertebrates.
Evolutionary analysis of FAM83H in vertebrates.
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脊椎动物中 FAM83H 的进化分析
DOI：
10.1371/journal.pone.0180360
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发表时间：
2017
期刊：
影响因子：
3.7
通讯作者：
Song Y
中科院分区：
文献类型：
--
作者：
Huang W;Yang M;Wang C;Song Y
釉质形成异常是一组引起各种表型的釉质形成异常的疾病。FAM 83 H基因中的许多突变已被鉴定为导致不同人群中常染色体显性遗传的低钙化釉质发生突变。然而，FAM 83 H的结构、功能及其病理机制还有待进一步探讨。进化分析是揭示蛋白质功能重要残基或基序的一种替代方法。在本研究中，我们选择了公共数据库中代表约2.3亿年进化的50种脊椎动物，包括1种两栖动物，2种鱼类，7种蜥脚类和40种哺乳动物，我们对FAM 83 H蛋白进行了进化分析。通过序列比对，发现了5种特有物种（马来穿山甲、鸭嘴兽、小须鲸、九带犰狳和土豚）的保守残基和模体，并发现了重要残基和模体的丢失。系统进化树显示了FAM 83 H的分化过程。FAM 83 H基因C端的正选择位点表明，FAM 83 H基因C端在进化过程中具有一定的适应性。结果证实了一些重要的模体在以前的研究结果，并确定了一些新的高度保守的残基和模体，需要进一步研究。结果表明，FAM 83 H的C-末端含有关键的保守区域，对釉质形成和钙化至关重要。
Amelogenesis imperfecta is a group of disorders causing abnormalities in enamel formation in various phenotypes. Many mutations in the FAM83H gene have been identified to result in autosomal dominant hypocalcified amelogenesis imperfecta in different populations. However, the structure and function of FAM83H and its pathological mechanism have yet to be further explored. Evolutionary analysis is an alternative for revealing residues or motifs that are important for protein function. In the present study, we chose 50 vertebrate species in public databases representative of approximately 230 million years of evolution, including 1 amphibian, 2 fishes, 7 sauropsidas and 40 mammals, and we performed evolutionary analysis on the FAM83H protein. By sequence alignment, conserved residues and motifs were indicated, and the loss of important residues and motifs of five special species (Malayan pangolin, platypus, minke whale, nine-banded armadillo and aardvark) was discovered. A phylogenetic time tree showed the FAM83H divergent process. Positive selection sites in the C-terminus suggested that the C-terminus of FAM83H played certain adaptive roles during evolution. The results confirmed some important motifs reported in previous findings and identified some new highly conserved residues and motifs that need further investigation. The results suggest that the C-terminus of FAM83H contain key conserved regions critical to enamel formation and calcification.
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