EHD2, EHD3, and EHD4 Encode Novel Members of a Highly Conserved Family of EH Domain-Containing Proteins

摘要: Exon trapping from a bacterial artificial chromosome (BAC 78138) mapping to the 19q13.3 glioma tumor suppressor candidate region yielded two exons that recognized 3.6-kb transcript on Northern blot. Screening of human fetal brain cDNA library with these identified three novel genes, designated EHD2, EHD3, and EHD4, which are homologous recently characterized EHD1 (testilin/HPAST) its mouse homolog Ehd1, as well homologs in Drosophila (Past1) Caenorhabditis elegans. Alignment predicted peptide sequences revealed striking similarities, multiple conserved regions include nucleotide-binding consensus site at N-terminus, bipartite nuclear localization signal, an eps15 homology (EH) protein-binding domain EF-hand motif C-terminus. The genes specifically expressed, EHD2 highly expressed heart, EHD3 EHD4 heart pancreas. was confirmed originate BAC 78138 19q13.3; radiation hybrid localized 2p21 15q11.1, respectively; has been previously mapped 11q13. paralogs therefore represent members family EH domain-containing proteins may play role endocytosis signaling. Mutation analysis five coding gliomas failed detect any tumor-specific alterations, thus indicating is unlikely for 19q gene.