Document Detail

Identification of brain-specific splicing variants of the hDLG1 gene and altered splicing in neuroblastoma cell lines.
MedLine Citation:
PMID:  9621517     Owner:  NLM     Status:  MEDLINE    
The human homologue of Drosophila tumor suppressor dlg, hDLG1, is one of the proteins known to interact with APC, a tumor suppressor for colorectal cancer. Alternative splicing of this gene generates transcripts either with [insertion 1 (I1)] or without 99 nucleotides in the 5' part of the dlg homology repeats (DHR) domain. We found almost equivalent expression of these two splicing variants in most human tissues; however, in skeletal muscle the transcript with the 99-bp insertion was predominant, and in the brain, that without the 99-bp insertion was expressed predominantly. We also examined alternative splicing in the region between the SH3 and GUK domains where two different sizes of insertions, 34 nucleotides (I2) or 100 nucleotides (I3), had been reported, and found various splicing patterns among the tissues examined. In brain we detected six different, alternatively spliced transcripts, two of which included a novel, 36-bp, brain-specific exon encoding a peptide bearing significant homology to a portion of rat synapse-associated protein, SAP97/PSD95. Subsequently, we investigated the splicing patterns of the hDLG1 gene in 24 neuroblastoma cell lines. In two-thirds of these lines, the splicing patterns were altered from those observed in normal brain tissue. As one-third retained the normal brain-splicing pattern, the loss of normal splicing of hDLG1 may not in itself cause formation of tumors, but it might reflect the biological character of individual neuroblastomas.
K Mori; K Iwao; Y Miyoshi; A Nakagawara; K Kofu; T Akiyama; N Arita; T Hayakawa; Y Nakamura
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of human genetics     Volume:  43     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  1998  
Date Detail:
Created Date:  1998-07-16     Completed Date:  1998-07-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  123-7     Citation Subset:  IM    
Department of Medical Genetics, Osaka University Medical School, Japan.
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MeSH Terms
Adaptor Proteins, Signal Transducing
Adenomatous Polyposis Coli Protein
Amino Acid Sequence
Brain / metabolism*
Brain Neoplasms / metabolism,  pathology
Cloning, Molecular
Cytoskeletal Proteins / metabolism
Drosophila Proteins*
Drosophila melanogaster / genetics
Gene Expression Regulation, Neoplastic
Genes, Tumor Suppressor*
Glioblastoma / metabolism,  pathology
Insect Proteins / genetics
Membrane Proteins
Molecular Sequence Data
Neoplasm Proteins / metabolism*
Nerve Tissue Proteins / genetics,  metabolism*
Neuroblastoma / metabolism,  pathology*
Organ Specificity
Polymerase Chain Reaction
Protein Biosynthesis
Proteins / genetics*
RNA Splicing*
RNA, Messenger / genetics,  metabolism
RNA, Neoplasm / genetics,  metabolism
Species Specificity
Tumor Cells, Cultured / metabolism
Tumor Suppressor Proteins*
Reg. No./Substance:
0/Adaptor Proteins, Signal Transducing; 0/Adenomatous Polyposis Coli Protein; 0/Cytoskeletal Proteins; 0/DLG1 protein, human; 0/Dlgh1 protein, rat; 0/Drosophila Proteins; 0/Insect Proteins; 0/Membrane Proteins; 0/Neoplasm Proteins; 0/Nerve Tissue Proteins; 0/Proteins; 0/RNA, Messenger; 0/RNA, Neoplasm; 0/Tumor Suppressor Proteins; 143513-41-1/discs large 1 protein, Drosophila

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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