Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues.

Publication Detail

The publication detail shows the title, authors (with indicators showing other profiled authors), information on the publishing organization, abstract and a link to the article in PubMed. This abstract is what is used to create the fingerprint of the publication. If any grants are referenced by the publication, they will be listed here as well.

L Xu; C Sterner; M M Maheshwar; P J Wilson; M Nellist; P M Short; J L Haines; J R Sampson; V Ramesh (Profiled Author: Haines, Jonathan L)

Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA.
Genomics 1995;27(3):475-80.

PubMed

Abstract

The recently isolated gene for tuberous sclerosis 2 (TSC2) encodes a 5.5-kb transcript that is widely expressed. The TSC2 gene product, named tuberin, is a 1784-amino-acid protein that shows a small stretch of homology to the GTPase activating protein rap1GAP. We have detected a novel variant of the TSC2 mRNA lacking 129 nucleotides, predicting an in-frame deletion of 43 amino acids spanning codons 946-988 of tuberin. This 129-bp deletion precisely corresponds to exon 25 of the TSC2 gene suggesting that alternative splicing leads to production of two forms of transcripts designated isoforms 1 and 2. Further molecular analysis revealed a third isoform exhibiting a deletion of 44 amino acids spanning codons 946-989 of tuberin. Amino acid 989 is a Ser residue encoded by the first codon of exon 26. The two isoforms also exist in newborn and adult mouse tissues, reinforcing the potential functional importance of these alternatively spliced products. These alternative isoforms should have implications for efforts aimed at identifying mutations in TSC patients. The distinct polypeptides encoded by the TSC2 gene may have different targets as well as functions involved in the regulation of cell growth.

Scientific Context

This section shows information related to the publication - computed using the fingerprint of the publication - including related publications, related experts and related grants with fingerprints representing significant amounts of overlap between their fingerprint and this publication. The red dots indicate whether those experts or terms appear within the publication, thereby showing potential and actual connections.

Related Grants

1.

SCHELLENBERG, GERARD DAVID

Genomic Analysis of Alzheimer's Disease Genes

1 June 1994 - 31 March 2014
NATIONAL INSTITUTE ON AGING
Total Funding: $ 2,446,596
2.

MYERS, RICHARD H

Characterization of the role of cyclin G-associated kinase in Parkinson disease

1 September 2011 - 30 April 2014
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Total Funding: $ 879,365
3.

Davies, Peter P

TAU ISOFORMS IN HUMAN BRAIN DISEASE AND TRANSGENIC MICE

26 July 2000 - 30 June 2002
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Total Funding: $ 251,250

Related Publications

1.
1995

A Kumar; R S Kandt; C Wolpert; A D Roses; M A Pericak-Vance; J R Gilbert

Mutation analysis of the TSC2 gene in an African-American family.
Human molecular genetics 1995;4(12):2295-8.
2.
1998

J R Gilbert; V Guy; A Kumar; C Wolpert; R Kandt; A Aylesworth; A D Roses; M A Pericak-Vance

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
Neurogenetics 1998;1(4):267-72.
3.
1996

P J Wilson; V Ramesh; A Kristiansen; C Bove; S Jozwiak; D J Kwiatkowski; M P Short; J L Haines

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
Human molecular genetics 1996;5(2):249-56.