WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3.

Abstract

We have identified and characterized a gene (60% on protein level) and a pseudogene (93% on DNA level) that show high similarity to the Wolf-Hirschhorn syndrome candidate gene-1 (WHSC1). These genes, WHSC1L1 and WHSC1L2P, map to human chromosomes 8p11.2 and 17q21, respectively. WHSC1L1 is ubiquitously expressed and, like WHSC1, generates two major transcripts, a short (s-type) and a long (l-type). The WHSC1L1 l-type transcript encodes a 1437-amino-acid protein containing 2 PWWP (proline-trypto-phan-proline-tryptophan) domains, 5 PHD (plant-home-domain)-type zinc finger motifs, a SAC (SET-associated Cys-rich) domain, and a SET (Suppressor of Variegation, Enhancer of Zeste and Trithorax) domain. The s-type transcript encodes a protein of 645 amino acids containing a PWWP domain only. WHSC1L2P is an unexpressed, intronless pseudogene of a WHSC1L1 s-type transcript. The 8p11.2 region around WHSC1L1 contains a set of genes including TACC1, FGFR1, LETM2, and WHSC1L1, which seems to be derived from a recent duplication involving 4p16.3 where a similar set of genes is located. Rearrangements of 8p are frequently found in human cancer, including breast cancer. These characteristics indicate that WHSC1L1 might have a role in embryonic development and, when disregulated, in cancer development.

• Authors: I Stec, G J van Ommen, J T den Dunnen
• Journal: Genomics (Genomics) Vol. 76 Issue 1-3 Pg. 5-8 (Aug 2001) ISSN: 0888-7543 [Print] United States
• PMID: 11549311 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Carrier Proteins
• High Mobility Group Proteins
• Repressor Proteins
• Histone-Lysine N-Methyltransferase
• NSD2 protein, human

Topics

• Carrier Proteins
• Chromosome Mapping
• Chromosomes, Human, Pair 4 (genetics)
• Chromosomes, Human, Pair 8 (genetics)
• Databases, Factual
• Gene Duplication
• High Mobility Group Proteins (genetics)
• Histone-Lysine N-Methyltransferase
• Humans
• Molecular Sequence Data
• Repressor Proteins
• Sequence Homology, Nucleic Acid
• Zinc Fingers (genetics)