Characterization of EZH1, a human homolog of Drosophila enhancer of zeste near BRCA1

Kenneth J. Abel, Lawrence C. Brody, John M. Valdes, Michael R. Erdos, Dawn R. McKinley, Lucio H. Castilla, Sofia D. Merajver, Fergus J. Couch, Lori S. Friedman, Elizabeth A. Ostermeyer, Eric D. Lynch, Mary Claire King, Piri L. Welcsh, Sherri Osborne-Lawrence, Monique Spillman, Anne M. Bowcock, Francis S. Collins, Barbara L. Weber

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


Recent transcription mapping efforts within chromosome 17q21 have led to the identification of a human homolog of the Drosophila gene Enhancer of zeste, E(z). A member of the Polycomb group (Pc-G) of proteins, Drosophila E(z) acts as a negative regulator of the segment identity genes of the Antennapedia and Bithorax complexes. Here we report the full-length protein coding sequence of human EZH1 (Enhancer of zeste homolog 1) and compare the respective protein sequences in both species. EZH1 encodes a protein of 747 amino acids that displays 55% amino acid identity overall (70% similarity) with Drosophila E(z). The strongest homology was noted (79% identity, 89% similarity) within the carboxy-terminal 245 amino acids, including the SET domain, a region of E(z) also conserved in other Drosophila proteins with roles in development and/or chromatin structure. A large Cys-rich region with a novel spatial pattern of cysteine residues was also conserved in both EZH1 and E(z). The strong sequence conservation suggests potential roles for EZH1 in human development as a transcriptional regulator and as a component of protein complexes that stably maintain heterochromatin. EZH1 is expressed as two major transcripts in all adult and fetal human tissues surveyed; comparison of cloned cDNAs suggests that alternative splicing may account for at least part of the transcript size difference. Analysis of one cDNA revealed an unusual splicing event involving EZH1 and a tandemly linked gene GPR2 and suggests a potential mechanism for modifying the EZH1 protein in the conserved C-terminal domain. The sequence and isolated cDNAs will provide useful reagents for determining the function of EZH1 and the importance of the evolutionarily conserved domains.

Original languageEnglish (US)
Pages (from-to)161-171
Number of pages11
Issue number2
StatePublished - Oct 15 1996

ASJC Scopus subject areas

  • Genetics


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