Characterization of the human and mouse HEY1, HEY2, and HEYL genes:: Cloning, mapping, and mutation screening of a new bHLH gene family
Characterization of the human and mouse HEY1, HEY2, and HEYL genes:: Cloning, mapping, and mutation screening of a new bHLH gene family
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DOI：
10.1006/geno.2000.6200
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发表时间：
2000-06-01
期刊：
影响因子：
4.4
通讯作者：
Gessler, M
中科院分区：
文献类型：
--
作者：
Steidl, C;Leimeister, C;Gessler, M
许多碱性螺旋-环-螺旋转录因子在不同物种中被认为是胚胎发育或分化的关键调节因子。我们从小鼠和人中分离并鉴定了三个新的与毛发相关的bHLH转录因子基因(与YRPW基序相关的毛发和分裂增强子基因：HEY1、HEY2和HeY1)。这三个HEP基因都有相似的基因组结构，有五个外显子。与一个高度相关的果蝇同源物一起，它们形成了一个新的bHLH基因亚家族，既不同于毛状动物，也不同于已知的脊椎动物Hes和Her基因。虽然bHLH结构域、Orange结构域和WRPW基序的总体结构相似，但最后一个基序在Hey1/2中被改为KPYRPWG，在Heyl中缺失。这一序列特征和其他序列特征表明，嘿蛋白具有独特的功能特性。通过荧光原位杂交和RH定位，将这些基因定位到人类染色体上：(HEY1)8q21、(HEY2)6q21和(HeY1)1p34.3。根据表达模式和地图位置，嘿基因是几个人类或老鼠疾病基因座的候选基因。然而，对受影响的两种人类疾病和四种小鼠突变个体的DNA进行初步筛选，没有发现编码区有任何诊断变化。(C)2000年学术出版社。
Many basic helix-loop-helix (bHLH) transcription factors are known as key regulators of embryonic development or differentiation in various species. We have isolated and characterized three new hairy-related bHLH transcription factor genes from mouse and human (hairy and Enhancer-of-split related with YRPW motif; HEY1, HEY2, and HEYL). All three HEP genes have a similar genomic structure with five exons. Together with a highly related Drosophila homologue, they form a new bHLH gene subfamily that is different from both hairy and the known vertebrate Hes and Her genes. While the overall structure with the bHLH domain, Orange domain, and WRPW motif is similar, the last motif is changed to KPYRPWG in Hey1/2 and absent in HeyL. This and other sequence features suggest Hey proteins to have unique functional properties. The genes were mapped by fluorescence in situ hybridization and RH mapping to the following human chromosomes: (HEY1) 8q21, (HEY2) 6q21, and (HEYL) 1p34.3. Based on expression patterns and map location, HEY genes are candidates for several human or mouse disease loci. However, initial screening of DNA from affected individuals for two human disorders and four mouse mutants did not reveal any diagnostic alterations in the coding regions. (C) 2000 Academic Press.