Elsevier

Genomics

Volume 66, Issue 2, 1 June 2000, Pages 195-203
Genomics

Regular Article
Characterization of the Human and Mouse HEY1, HEY2, and HEYL Genes: Cloning, Mapping, and Mutation Screening of a New bHLH Gene Family

https://doi.org/10.1006/geno.2000.6200Get rights and content

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.

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    Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession Nos. (human HEY1) AJ272214, (murine Hey1) AJ243895, (human HEY2) AJ249545, (murine Hey2) AJ271867, (murine HeyL) AJ271868, and (human HEYL) AJ272215.

    1

    To whom correspondence should be addressed at Theodor-Boveri-Institut/Physiologische Chemie I, Biozentrum der Universität Würzburg, Am Hubland, D-97074 Würzburg, Germany. Telephone: (49)-931-888-4159. Fax: (49)-931-888-7038. E-mail: [email protected].

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