Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34-Reference-Cited by-同舟云学术

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

Published:1997-08-08 Issue:5327 Volume:277 Page:805-808
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Slegtenhorst Marjon van¹²³⁴⁵,Hoogt Ronald de¹²³⁴⁵,Hermans Caroline¹²³⁴⁵,Nellist Mark¹²³⁴⁵,Janssen Bart¹²³⁴⁵,Verhoef Senno¹²³⁴⁵,Lindhout Dick¹²³⁴⁵,Ouweland Ans van den¹²³⁴⁵,Halley Dicky¹²³⁴⁵,Young Janet¹²³⁴⁵,Burley Mariwyn¹²³⁴⁵,Jeremiah Steve¹²³⁴⁵,Woodward Karen¹²³⁴⁵,Nahmias Joseph¹²³⁴⁵,Fox Margaret¹²³⁴⁵,Ekong Rosemary¹²³⁴⁵,Osborne John¹²³⁴⁵,Wolfe Jonathan¹²³⁴⁵,Povey Sue¹²³⁴⁵,Snell Russell G.¹²³⁴⁵,Cheadle Jeremy P.¹²³⁴⁵,Jones Alistair C.¹²³⁴⁵,Tachataki Maria¹²³⁴⁵,Ravine David¹²³⁴⁵,Sampson Julian R.¹²³⁴⁵,Reeve Mary Pat¹²³⁴⁵,Richardson Paul¹²³⁴⁵,Wilmer Friederike¹²³⁴⁵,Munro Cheryl¹²³⁴⁵,Hawkins Trevor L.¹²³⁴⁵,Sepp Tiina¹²³⁴⁵,Ali Johari B. M.¹²³⁴⁵,Ward Susannah¹²³⁴⁵,Green Andrew J.¹²³⁴⁵,Yates John R. W.¹²³⁴⁵,Kwiatkowska Jolanta¹²³⁴⁵,Henske Elizabeth P.¹²³⁴⁵,Short M. Priscilla¹²³⁴⁵,Haines Jonathan H.¹²³⁴⁵,Jozwiak Sergiusz¹²³⁴⁵,Kwiatkowski David J.¹²³⁴⁵

Affiliation:

1. The TSC1 Consortium:

2. M. van Slegtenhorst, R. de Hoogt, C. Hermans, M. Nellist, B. Janssen, S. Verhoef, D. Lindhout, A. van den Ouweland, D. Halley, Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, Netherlands.

3. J. Young, M. Burley, S. Jeremiah, K. Woodward, J. Nahmias, M. Fox, R. Ekong, J. Wolfe, S. Povey, MRC Human Biochemical Genetics Unit and Galton Laboratory, University College of London, London NW1 2HE, UK.

4. J. Osborne, University of Bath, Bath BA2 7AY, UK.

5. R. G. Snell, J. P. Cheadle, A. C. Jones, M. Tachataki, D. Ravine, J. R. Sampson, Institute of Medical Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, Wales, UK.

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 ( TSC1 ) and 16p13 ( TSC2 ). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified in TSC1 , 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference69 articles.

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