WHSC1L1, on human chromosome 8p11.2, closely resembles WMSC1 and maps to aduplicated region shared with 4p16.3

We have identified and characterized a gene (60% on protein level) and a ps eudogene (93% on DNA level) that show high similarity to the Wolf-Hirschhor n syndrome candidate gene-1 (WHSC1). These genes, WHSC1L1 and WHSC1L2P, map to human chromosomes 8p11.2 and 17q21, respectively. WHSC1L1 is ubiquitous ly expressed and, like WHSC1, generates two major transcripts, a short (s-t ype) and a long (I-type). The WHSC1L1 1-type transcript encodes a 1437-amin o-acid protein containing 2 PWWP (proline-tryptophan-proline-tryptophan) do mains, 5 PHD (plant-home-domain)-type zinc finger motifs, a SAC (SET-associ ated Cys-rich) domain, and a SET (Suppressor of Variegation, Enhancer of Ze ste and Trithorax) domain. The s-type transcript encodes a protein of 645 a mino acids containing a PWWP domain only. WHSC1L2P is an unexpressed, intro nless pseudogene of a WHSC1L1 s-type transcript. The 8p11.2 region around W HSC1L1 contains a set of genes including TAM, FGFR1, LETM2, and WHSC1L1, wh ich seems to be derived from a recent duplication involving 4p16.3 where a similar set of genes is located. Rearrangements of Sp are frequently found in human cancer, including breast cancer. These characteristics indicate th at WHSC1L1 might have a role in embryonic development and, when disregulate d, in cancer development.