title: The mouse ortholog of the human SMARCB1 gene encodes two splice forms.
abstract: The human SMARCB1 gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1, previously named the INI1/hSNF5 gene) is a tumor suppressor gene located on chromosome 22q11.2 and is inactivated in malignant rhabdoid tumors. By using an EST-based approach, we cloned two splice forms of the Smarcb1 gene in mouse and a longer splice form of the human ortholog. Proteins corresponding to the longer (385 aa) and the shorter (376 aa) forms are 100% conserved between human and mouse. Meningiomas and schwannomas are tumors frequently deleting various regions on chromosome 22, including the SMARCB1 locus. We therefore directly sequenced seven SMARCB1 exons (90% of the open reading frame) in search for mutations in 41 meningiomas and 23 schwannomas. No inactivating mutations were observed, which suggests that the SMARCB1 gene is not involved in the pathogenesis of these tumors.
authors: Clinical Genetics Unit, Karolinska Hospital, CMM Building L-8:00, Stockholm, S-17176, Sweden.
authors: C E
authors: CE
authors: Bruder
authors: J P
authors: JP
authors: Dumanski
authors: D
authors: D
authors: Kedra
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002868:Chromosomal Proteins, Non-Histone; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D017124:Conserved Sequence / Q000235:genetics; D020451:Contig Mapping; D003545:Cysteine / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D005091:Exons / Q000235:genetics; D020224:Expressed Sequence Tags; D018507:Gene Expression Regulation, Developmental; D016678:Genome; D006801:Humans; D008579:Meningioma / Q000235:genetics; D008715:Methionine / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D009442:Neurilemmoma / Q000235:genetics; D000071796:SMARCB1 Protein; D017386:Sequence Homology, Amino Acid; D012984:Software; D014157:Transcription Factors
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; C513265:Smarcb1 protein, mouse; D014157:Transcription Factors; D008715:Methionine; D003545:Cysteine