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

Genomics. 2001 Aug;76(1-3):5-8. doi: 10.1006/geno.2001.6581.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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


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

Associated data

  • GENBANK/AF332468
  • GENBANK/AF332469