S100 proteins in mouse and man: from evolution to function and pathology (including an update of the nomenclature)

作者: Ingo Marenholz , Claus W. Heizmann , Günter Fritz

DOI: 10.1016/J.BBRC.2004.07.096

关键词: Gene clusterPseudogeneExtracellularGeneticsS100 proteinGeneProtein structureBiologyGenomic organizationEF hand

摘要: The S100 protein family is the largest subgroup within superfamily of proteins carrying Ca2+-binding EF-hand motif. Despite their small molecular size and conserved functional domain two distinct EF-hands, developed a plethora tissue-specific intra- extracellular functions. Accordingly, various diseases such as cardiomyopathies, neurodegenerative inflammatory disorders, cancer are associated with altered levels. Here, we review different functions related from an evolutionary point view. We analyzed structural variations, which basis diversification, well genomic organization in human compared it repertoires mouse rat. genes highly between mammalian species. Moreover, identified subgroups three species, share similarity form subclusters on level. available S100-specific models summarized consequences our results discussed regard to use genetically engineered mice disease models. An update nomenclature included, because some recently pseudogenes had be renamed.

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