PMID- 10208879
OWN - NLM
STAT- MEDLINE
DCOM- 19990601
LR  - 20161124
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 257
IP  - 3
DP  - 1999 Apr 21
TI  - The mouse ortholog of the human SMARCB1 gene encodes two splice forms.
PG  - 886-90
AB  - 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.
CI  - Copyright 1999 Academic Press.
FAU - Bruder, C E
AU  - Bruder CE
AD  - Clinical Genetics Unit, Karolinska Hospital, CMM Building L-8:00, Stockholm,
      S-17176, Sweden.
FAU - Dumanski, J P
AU  - Dumanski JP
FAU - Kedra, D
AU  - Kedra D
LA  - eng
SI  - GENBANK/AJ011737
SI  - GENBANK/AJ011738
SI  - GENBANK/AJ011739
SI  - GENBANK/AJ011740
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (Chromosomal Proteins, Non-Histone)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (SMARCB1 Protein)
RN  - 0 (SMARCB1 protein, human)
RN  - 0 (Smarcb1 protein, mouse)
RN  - 0 (Transcription Factors)
RN  - AE28F7PNPL (Methionine)
RN  - K848JZ4886 (Cysteine)
SB  - IM
MH  - Alternative Splicing/*genetics
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Chromosomal Proteins, Non-Histone
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Conserved Sequence/genetics
MH  - Contig Mapping
MH  - Cysteine/genetics/metabolism
MH  - DNA Mutational Analysis
MH  - DNA-Binding Proteins/chemistry/*genetics
MH  - Exons/genetics
MH  - Expressed Sequence Tags
MH  - Gene Expression Regulation, Developmental
MH  - Genome
MH  - Humans
MH  - Meningioma/genetics
MH  - Methionine/genetics
MH  - Mice
MH  - Molecular Sequence Data
MH  - Neurilemmoma/genetics
MH  - SMARCB1 Protein
MH  - Sequence Homology, Amino Acid
MH  - Software
MH  - Transcription Factors
EDAT- 1999/04/20 00:00
MHDA- 1999/04/20 00:01
CRDT- 1999/04/20 00:00
PHST- 1999/04/20 00:00 [pubmed]
PHST- 1999/04/20 00:01 [medline]
PHST- 1999/04/20 00:00 [entrez]
AID - S0006-291X(99)90563-6 [pii]
AID - 10.1006/bbrc.1999.0563 [doi]
PST - ppublish
SO  - Biochem Biophys Res Commun. 1999 Apr 21;257(3):886-90. doi:
      10.1006/bbrc.1999.0563.