L Powell, M Barroso-Gil, G J Clowry, L A Devlin, E Molinari, S A Ramsbottom, C G Miles, J A Sayer
{"title":"纤毛症基因 ARL3 和 CEP120 的表达模式揭示了它们在多系统发育中的作用。","authors":"L Powell, M Barroso-Gil, G J Clowry, L A Devlin, E Molinari, S A Ramsbottom, C G Miles, J A Sayer","doi":"10.1186/s12861-020-00231-3","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes ARL3 and CEP120.</p><p><strong>Methods: </strong>We sought to explore the developmental expression patterns of ARL3 and CEP120 in humans to gain additional understanding of these genetic conditions. We used an RNA in situ detection technique called RNAscope to characterise ARL3 and CEP120 expression patterns in human embryos and foetuses in collaboration with the MRC-Wellcome Trust Human Developmental Biology Resource.</p><p><strong>Results: </strong>Both ARL3 and CEP120 are expressed in early human brain development, including the cerebellum and in the developing retina and kidney, consistent with the clinical phenotypes seen with pathogenic variants in these genes.</p><p><strong>Conclusions: </strong>This study provides insights into the potential pathogenesis of JSRD by uncovering the spatial expression of two JSRD-causative genes during normal human development.</p>","PeriodicalId":9130,"journal":{"name":"BMC Developmental Biology","volume":"20 1","pages":"26"},"PeriodicalIF":0.0000,"publicationDate":"2020-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727171/pdf/","citationCount":"0","resultStr":"{\"title\":\"Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.\",\"authors\":\"L Powell, M Barroso-Gil, G J Clowry, L A Devlin, E Molinari, S A Ramsbottom, C G Miles, J A Sayer\",\"doi\":\"10.1186/s12861-020-00231-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes ARL3 and CEP120.</p><p><strong>Methods: </strong>We sought to explore the developmental expression patterns of ARL3 and CEP120 in humans to gain additional understanding of these genetic conditions. We used an RNA in situ detection technique called RNAscope to characterise ARL3 and CEP120 expression patterns in human embryos and foetuses in collaboration with the MRC-Wellcome Trust Human Developmental Biology Resource.</p><p><strong>Results: </strong>Both ARL3 and CEP120 are expressed in early human brain development, including the cerebellum and in the developing retina and kidney, consistent with the clinical phenotypes seen with pathogenic variants in these genes.</p><p><strong>Conclusions: </strong>This study provides insights into the potential pathogenesis of JSRD by uncovering the spatial expression of two JSRD-causative genes during normal human development.</p>\",\"PeriodicalId\":9130,\"journal\":{\"name\":\"BMC Developmental Biology\",\"volume\":\"20 1\",\"pages\":\"26\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-12-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727171/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BMC Developmental Biology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s12861-020-00231-3\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Biochemistry, Genetics and Molecular Biology\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Developmental Biology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s12861-020-00231-3","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.
Background: Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes ARL3 and CEP120.
Methods: We sought to explore the developmental expression patterns of ARL3 and CEP120 in humans to gain additional understanding of these genetic conditions. We used an RNA in situ detection technique called RNAscope to characterise ARL3 and CEP120 expression patterns in human embryos and foetuses in collaboration with the MRC-Wellcome Trust Human Developmental Biology Resource.
Results: Both ARL3 and CEP120 are expressed in early human brain development, including the cerebellum and in the developing retina and kidney, consistent with the clinical phenotypes seen with pathogenic variants in these genes.
Conclusions: This study provides insights into the potential pathogenesis of JSRD by uncovering the spatial expression of two JSRD-causative genes during normal human development.
期刊介绍：
BMC Developmental Biology is an open access, peer-reviewed journal that considers articles on the development, growth, differentiation and regeneration of multicellular organisms, including molecular, cellular, tissue, organ and whole organism research.
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