title: NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines.
abstract: We describe the isolation and characterization of NSD3, the third member of a gene family including Nsd1 and NSD2. Murine Nsd1 was isolated in a search for proteins that interact with the ligand-binding domain of retinoic acid receptor alpha. NSD2 (also known as WHSC1 and MMSET) is located in the Wolf-Hirschhorn syndrome (WHS) critical region on 4p16.3 and is involved in multiple myeloma with t(4;14) translocations. The proteins Nsd1, NSD2, and NSD3 are highly similar within a block of about 700 amino acids. This block contains several conserved domains, such as the SET domain and the PHD finger, present in proteins involved in development and/or chromatin reorganization. The NSD3 gene consists of an 8.5-kb transcript composed of 23 coding exons and spans >90 kb of genomic DNA. NSD3 maps to chromosome band 8p12 and is amplified in several tumor cell lines and primary breast carcinomas.
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, Illkirch Cedex, C.U. de Strasbourg, F-67404, France. angrand@igbmc.u-strasbg.fr
authors.forename: P O
authors.initials: PO
authors.lastname: Angrand
authors.forename: F
authors.initials: F
authors.lastname: Apiou
authors.forename: A F
authors.initials: AF
authors.lastname: Stewart
authors.forename: B
authors.initials: B
authors.lastname: Dutrillaux
authors.forename: R
authors.initials: R
authors.lastname: Losson
authors.forename: P
authors.initials: P
authors.lastname: Chambon
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001665:Binding Sites; D015152:Blotting, Northern; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005091:Exons; D005260:Female; D005784:Gene Amplification; D015870:Gene Expression; D005796:Genes / Q000235:genetics; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D011061:Poly A / Q000235:genetics; D020033:Protein Isoforms / Q000235:genetics; D012313:RNA / Q000235:genetics / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution; D014407:Tumor Cells, Cultured
chemical_list: D002352:Carrier Proteins; D018076:DNA, Complementary; D009687:Nuclear Proteins; D020033:Protein Isoforms; D011061:Poly A; D012313:RNA; D011495:Histone-Lysine N-Methyltransferase; C432968:NSD3 protein, human