Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

Science

Volumn 277, Issue 5327, 1997, Pages 805-808

  Van Slegtenhorst, Marjon ^a   De Hoogt, Ronald ^a   Hermans, Caroline ^a   Nellist, Mark ^a   Janssen, Bart ^a   Verhoef, Senno ^a   Lindhout, Dick ^a   Van Den Ouweland, Ans ^a   Halley, Dicky ^a   Young, Janet ^b   Burley, Mariwyn ^b   Jeremiah, Steve ^b   Woodward, Karen ^b   Nahmias, Joseph ^b   Fox, Margaret ^b   Ekong, Rosemary ^b   Osborne, John ^c   Wolfe, Jonathan ^b   Povey, Sue ^b   Snell, Russell G ^d   Cheadle, Jeremy P ^d   Jones, Alistair C ^d   Tachataki, Maria ^d   Ravine, David ^d   Sampson, Julian R ^d   Reeve, Mary Pat ^e   Richardson, Paul ^e   Wilmer, Friederike ^e   Munro, Cheryl ^e   Hawkins, Trevor L ^e   Sepp, Tiina ^f   Ali, Johari B M ^f   Ward, Susannah ^f   Green, Andrew J ^f   Yates, John R W ^f   Kwiatkowska, Jolanta ^j   Henske, Elizabeth P ^j   Short, M Priscilla ^g   Haines, Jonathan H ^h   Jozwiak, Sergiusz ⁱ   Kwiatkowski, David J ^j   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF BATH   (United Kingdom)

^d CARDIFF UNIVERSITY   (United Kingdom)

^e WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^g UNIVERSITY OF CHICAGO   (United States)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^j BRIGHAM AND WOMEN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ARTICLE; CHROMOSOME 9Q; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; KIDNEY CARCINOMA; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; TUBEROUS SCLEROSIS;

AMINO ACID SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; EXONS; GENES, TUMOR SUPPRESSOR; HUMANS; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MOLECULAR WEIGHT; MUTATION; POLYMERASE CHAIN REACTION; PROTEINS; REPRESSOR PROTEINS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0030879277     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.277.5327.805     Document Type: Article

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40. Cosmid, BAC, or PAC DNA was digested with Pst I or Bam HI, and a library of subclones was prepared in pSPL3 [A. J. Buckler et al., Proc. Natl. Acad. Sci. U.S.A. 88, 4005 (1991); E. P. Henske et al., Ann. Hum. Genet. 59, 25 (1995)]. Exons identified in this manner were used to identify cDNA clones (i) by screening cDNA libraries by conventional methods, (ii) by screening GenBank and dbEST databases, and (iii) in reverse transcription PCR experiments. IMAGE clones were obtained from Research Genetics or the UK Human Genome Mapping Project (HGMP) Resource Centre.
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42. Complementary DNA selection was performed using the end-ligation coincident sequence cloning method [A. J. Brookes et al., Hum. Mol. Genet. 3, 2011 (1994)]. A normalized infant brain cDNA library [M. B. Soares et al., Proc. Natl. Acad. Sci. U.S.A. 91, 9228 (1994)] was screened using whole cosmids as probes. A human fetal brain cDNA library (Clontech) was screened by standard phage plating and filter lift methods.
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60. We thank the hundreds of TSC patients and their families for blood samples and financial support (particularly V. Whittemore and W. Watts), and numerous clinicians (particularly A. Oranje, H. Stroink, M. Wildervanck de Blecourt, H. Kros, B. Prahl-Andersen, and H. L. J. Tanghe) for assistance; H. Galjaard and P. Harper for support; R. Bakker, S. Ramlakhan, D. Humphrey, Q. Wang, M. Maheshwar, A. L. W. Hesseling-Janssen, N. Thomas, and R. Slomski for technical support; and the UK HGMP Resource Centre and the European Collection of Animal Cell Cultures. Supported by the NIH, National Tuberous Sclerosis Association, Tuberous Sclerosis Association of Great Britain, Dutch Organization for Scientific Research (NWO), Dutch Tuberous Sclerosis Association (STSN), Dutch Kidney Foundation, Westminster Medical School Research Trust (Royds Fund), Bath Unit for Research into Paediatrics, and New Zealand Health Resources Council.