Download Gene Section WHSC1L1 (Wolf-Hirschhorn syndrome candidate 1 like gene 1)

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Gene Section
Short Communication
WHSC1L1 (Wolf-Hirschhorn syndrome candidate 1
like gene 1)
Jean Loup Huret
Genetics, Dept Medical Information, UMR 8125 CNRS, University of Poitiers, CHU Poitiers Hospital, F86021 Poitiers, France (JLH)
Published in Atlas Database: March 2005
Online updated version: http://AtlasGeneticsOncology.org/Genes/WHSC1L1NSD3ID42810ch8p11.html
DOI: 10.4267/2042/38187
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2005 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Localisation
Identity
Putative nuclear location.
Other names: NSD3 (Nuclear receptor-binding,
su(var), enhancer-of-zeste and trithorax domaincontaining protein 3)
HGNC (Hugo): WHSC1L1
Location: 8p11.2
Local order: WHSC1L1/NSD3 is 30 kb more
telomeric than FGFR1.
Function
May have a regulatory role.
Homology
NSD1, WHSC1/NSD2.
Mutations
DNA/RNA
Somatic
A hybrid gene involving WHSC1L1/NSD3 was found
in a rare leukemia subtype (see below); amplification of
a region containing WHSC1L1/NSD3 was found in a
subset of breast cancers (but it remains to be
determined which gene, within an amplicon, is the
critical gene).
Description
The gene spans 127 kb on minus strand.
Transcription
2 major transcripts: a short transcript ending after an
alternative exon 10b (3995 bp), and a long form from
exon 1 to 24 (5428 bp).
Implicated in
Protein
t(8;11)(p11;p15) Acute non lymphocytic
leukemia with WHSC1L1/NSD3 - NUP98
Description
Prognosis
Yet unknown: only 1 case with a proven hybrid gene 5'
NUP98 - 3' NSD3; 2 other possible cases, but other
genes may also be involved.
The long transcript encodes a 1437 aminonacids
protein (162 kDa) containing from N-term to C-term: a
PWWP
(proline-tryptophan-tryptophan-proline)
domain, 4 PHD (plant-home domain)- type zinc finger
motifs, a second PWWP domain, a SET associated
cystein rich domain (SAC), a SET domain, a fifth
PHD,and a Cys-His rich domain. The short transcript
encodes a 645 amino acids protein (73 kDa) containing
only the N-term t PWWP domain.
To be noted
Note
This region in 8p11.2 seems to be derived from a
duplication of 4p16.3 with similar genes WHSC1L1,
FGFR1, and TACC1 in 8p11 from pter, and TACC3,
FGFR3, and WHSC1 in 4p16 from pter.
Expression
Wide.
Atlas Genet Cytogenet Oncol Haematol. 2005; 9(2)
145
WHSC1L1 (Wolf-Hirschhorn syndrome candidate 1 like gene 1)
Huret JL
Rosati R, La Starza R, Veronese A, Aventin A, Schwienbacher
C, Vallespi T, Negrini M, Martelli MF, Mecucci C. NUP98 is
fused to the NSD3 gene in acute myeloid leukemia associated
with t(8;11)(p11.2;p15). Blood. 2002 May 15;99(10):3857-60
References
Angrand PO, Apiou F, Stewart AF, Dutrillaux B, Losson R,
Chambon P. NSD3, a new SET domain-containing gene, maps
to 8p12 and is amplified in human breast cancer cell lines.
Genomics. 2001 May 15;74(1):79-88
This article should be referenced as such:
Huret JL. WHSC1L1 (Wolf-Hirschhorn syndrome candidate 1
like gene 1). Atlas Genet Cytogenet Oncol Haematol. 2005;
9(2):145-146.
Stec I, van Ommen GJ, den Dunnen JT. 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
Atlas Genet Cytogenet Oncol Haematol. 2005; 9(2)
146