The Mouse Ortholog of the HumanSMARCB1Gene Encodes Two Splice Forms

The humanSMARCB1gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1, previously named theINI1/hSNF5gene) is a tumor suppressor gene located on chromosome 22q11.2 and is inactivated in malignant rhabdoid tumors. By using an EST-based approach, we cl...

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Bibliographic Details
Published in:Biochemical and biophysical research communications 1999-04, Vol.257 (3), p.886-890
Main Authors: Bruder, Carl E.G., Dumanski, Jan P., Kedra, Darek
Format: Article
Language:English
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Summary:The humanSMARCB1gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1, previously named theINI1/hSNF5gene) 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 theSmarcb1gene 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 theSMARCB1locus. We therefore directly sequenced sevenSMARCB1exons (90% of the open reading frame) in search for mutations in 41 meningiomas and 23 schwannomas. No inactivating mutations were observed, which suggests that theSMARCB1gene is not involved in the pathogenesis of these tumors.
ISSN:0006-291X
1090-2104
DOI:10.1006/bbrc.1999.0563