%0 Journal Article %1 Steidl.2000 %A Steidl, C. %A Leimeister, C. %A Klamt, B. %A Maier, M. %A Nanda, I. %A Dixon, M. %A Clarke, R. %A Schmid, M. %A Gessler, M. %D 2000 %J Genomics %K *Multigene *Mutation Acid Amino Animals Cloning;Molecular Data Evolution;Molecular Factors/*genetics Family Helix-Loop-Helix Homology;Amino Humans Hybridization;Fluorescence In Mice Molecular Motifs/*genetics Phylogeny Sequence Situ Transcription %N 2 %P 195--203 %T Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family %V 66 %X 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 HEY 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.

@article{Steidl.2000, abstract = {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 HEY 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.}, added-at = {2013-01-29T13:47:26.000+0100}, author = {Steidl, C. and Leimeister, C. and Klamt, B. and Maier, M. and Nanda, I. and Dixon, M. and Clarke, R. and Schmid, M. and Gessler, M.}, biburl = {https://www.bibsonomy.org/bibtex/2090dec023fae605d9f501163688a0399/ebch}, interhash = {08441b60e0303571f743991990735351}, intrahash = {090dec023fae605d9f501163688a0399}, journal = {Genomics}, keywords = {*Multigene *Mutation Acid Amino Animals Cloning;Molecular Data Evolution;Molecular Factors/*genetics Family Helix-Loop-Helix Homology;Amino Humans Hybridization;Fluorescence In Mice Molecular Motifs/*genetics Phylogeny Sequence Situ Transcription}, number = 2, pages = {195--203}, timestamp = {2013-01-29T13:47:31.000+0100}, title = {Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family}, volume = 66, year = 2000 }