EHD2, EHD3,and EHD4Encode Novel Members of a Highly Conserved Family of EH Domain-Containing Proteins

Autor: Pohl, Ute, Smith, Justin S., Tachibana, Issei, Ueki, Keisuke, Lee, Hyun K., Ramaswamy, Shivapriya, Wu, Qiang, Mohrenweiser, Harvey W., Jenkins, Robert B., Louis, David N.
Zdroj: Genomics; January 2000, Vol. 63 Issue: 2 p255-262, 8p
Abstrakt: Exon trapping from a bacterial artificial chromosome (BAC 78138) mapping to the 19q13.3 glioma tumor suppressor candidate region yielded two exons that recognized a 3.6-kb transcript on Northern blot. Screening of a human fetal brain cDNA library with these exons identified three novel genes, designated EHD2, EHD3,and EHD4,which are homologous to the recently characterized human EHD1 (testilin/HPAST)and its mouse homolog Ehd1,as well as to homologs in Drosophila (Past1)and Caenorhabditis elegans.Alignment of the predicted peptide sequences revealed striking similarities, with multiple conserved regions that include a nucleotide-binding consensus site at the N-terminus, a bipartite nuclear localization signal, and an eps15 homology (EH) protein-binding domain with an EF-hand motif at the C-terminus. The genes are specifically expressed, with EHD2highly expressed in heart, EHD3in brain and heart, and EHD4in heart and pancreas. EHD2was confirmed to originate from BAC 78138 at 19q13.3; radiation hybrid mapping localized EHD3and EHD4to 2p21 and 15q11.1, respectively; EHD1has been previously mapped to 11q13. The three EHD1paralogs therefore represent novel members of a family of human EH domain-containing proteins that may play a role in endocytosis and signaling. Mutation analysis of the five coding exons of EHD2in gliomas failed to detect any tumor-specific alterations, thus indicating that EHD2is an unlikely candidate for the 19q tumor suppressor gene.
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