title: Two single nucleotide polymorphisms of the hSNF5/INI1 gene.
abstract: We found two single nucleotide polymorphisms at the hSNF5/INI1 gene located on 22q11.2, encoding a member of the chromatin-remodelling SWI/SNF multiprotein complexes. A guanine/adenine polymorphism at codon 299 in exon 7, and another guanine/adenine polymorphism at 39 bp upstream of exon 9 were identified. As the gene was recently identified as a tumor suppressor gene for malignant rhabdoid tumor, this polymorphism may be useful for the genetic study of susceptibility for human malignancies of various tissue origins.
authors.affiliation: Department of Obstetrics and Gynecology, Nippon Medical School, Tokyo, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Mine
authors.forename: K
authors.initials: K
authors.lastname: Bando
authors.forename: Y
authors.initials: Y
authors.lastname: Utada
authors.forename: H
authors.initials: H
authors.lastname: Nagai
authors.forename: T
authors.initials: T
authors.lastname: Araki
authors.forename: M
authors.initials: M
authors.lastname: Emi
mesh_terms: D000225:Adenine; D002868:Chromosomal Proteins, Non-Histone; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D016147:Genes, Tumor Suppressor; D006147:Guanine; D006801:Humans; D017354:Point Mutation; D011110:Polymorphism, Genetic; D018335:Rhabdoid Tumor / Q000235:genetics; D000071796:SMARCB1 Protein; D014157:Transcription Factors
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors; D006147:Guanine; D000225:Adenine