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Gene Review

WHSC1L1  -  Wolf-Hirschhorn syndrome candidate 1-like 1

Homo sapiens

Synonyms: DC28, FLJ20353, Histone-lysine N-methyltransferase NSD3, NSD3, Nuclear SET domain-containing protein 3, ...
 
 
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Disease relevance of WHSC1L1

 

High impact information on WHSC1L1

  • This strong sequence similarity suggests that abrogation of NSD2 or NSD3 function may cause non-NSD1 Sotos cases or other overgrowth phenotypes [4].
  • WHSC1L2P is an unexpressed, intronless pseudogene of a WHSC1L1 s-type transcript [5].
  • WHSC1L1 is ubiquitously expressed and, like WHSC1, generates two major transcripts, a short (s-type) and a long (l-type) [5].
  • These characteristics indicate that WHSC1L1 might have a role in embryonic development and, when disregulated, in cancer development [5].
  • The NSD3 gene consists of an 8.5-kb transcript composed of 23 coding exons and spans >90 kb of genomic DNA [2].
 

Biological context of WHSC1L1

References

  1. High-resolution genomic profiles of human lung cancer. Tonon, G., Wong, K.K., Maulik, G., Brennan, C., Feng, B., Zhang, Y., Khatry, D.B., Protopopov, A., You, M.J., Aguirre, A.J., Martin, E.S., Yang, Z., Ji, H., Chin, L., Depinho, R.A. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  2. NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines. Angrand, P.O., Apiou, F., Stewart, A.F., Dutrillaux, B., Losson, R., Chambon, P. Genomics (2001) [Pubmed]
  3. NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). Rosati, R., La Starza, R., Veronese, A., Aventin, A., Schwienbacher, C., Vallespi, T., Negrini, M., Martelli, M.F., Mecucci, C. Blood (2002) [Pubmed]
  4. Evaluation of NSD2 and NSD3 in overgrowth syndromes. Douglas, J., Coleman, K., Tatton-Brown, K., Hughes, H.E., Temple, I.K., Cole, T.R., Rahman, N. Eur. J. Hum. Genet. (2005) [Pubmed]
  5. WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3. Stec, I., van Ommen, G.J., den Dunnen, J.T. Genomics (2001) [Pubmed]
 
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