Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

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

doi:10.1126/science.277.5327.805

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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 8.6kilobase 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 allale was found in a TSC- associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.

Original language	English
Pages (from-to)	805-808
Number of pages	4
Journal	Science
Volume	277
Issue number	5327
DOIs	https://doi.org/10.1126/science.277.5327.805
Publication status	Published - 8 Aug 1997
Externally published	Yes

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Van Slegtenhorst, M., De Hoogt, R., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., Van Den Ouweland, A., Halley, D., Young, J., Burley, M., Jeremiah, S., Woodward, K., Nahmias, J., Fox, M., Ekong, R., Osborne, J., Wolfe, J., Povey, S., ... Kwiatkowski, D. J. (1997). Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science, 277(5327), 805-808. https://doi.org/10.1126/science.277.5327.805

@article{a0773b99141e4b45a667f7116f2c90e5,

title = "Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34",

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 8.6kilobase 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 allale was found in a TSC- associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.",

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

year = "1997",

month = aug,

day = "8",

doi = "10.1126/science.277.5327.805",

language = "English",

volume = "277",

pages = "805--808",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

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Van Slegtenhorst, M, De Hoogt, R, Hermans, C, Nellist, M, Janssen, B, Verhoef, S, Lindhout, D, Van Den Ouweland, A, Halley, D, Young, J, Burley, M, Jeremiah, S, Woodward, K, Nahmias, J, Fox, M, Ekong, R, Osborne, J, Wolfe, J, Povey, S, Snell, RG, Cheadle, JP, Jones, AC, Tachataki, M, Ravine, D, Sampson, JR, Reeve, MP, Richardson, P, Wilmer, F, Munro, C, Hawkins, TL, Sepp, T, Ali, JBM, Ward, S, Green, AJ, Yates, JRW, Kwiatkowska, J, Henske, EP, Short, MP, Haines, JH, Jozwiak, S & Kwiatkowski, DJ 1997, 'Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34', Science, vol. 277, no. 5327, pp. 805-808. https://doi.org/10.1126/science.277.5327.805

TY - JOUR

T1 - Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

AU - Van Slegtenhorst, Marjon

AU - De Hoogt, Ronald

AU - Hermans, Caroline

AU - Nellist, Mark

AU - Janssen, Bart

AU - Verhoef, Senno

AU - Lindhout, Dick

AU - Van Den Ouweland, Ans

AU - Halley, Dicky

AU - Young, Janet

AU - Burley, Mariwyn

AU - Jeremiah, Steve

AU - Woodward, Karen

AU - Nahmias, Joseph

AU - Fox, Margaret

AU - Ekong, Rosemary

AU - Osborne, John

AU - Wolfe, Jonathan

AU - Povey, Sue

AU - Snell, Russell G.

AU - Cheadle, Jeremy P.

AU - Jones, Alistair C.

AU - Tachataki, Maria

AU - Ravine, David

AU - Sampson, Julian R.

AU - Reeve, Mary Pat

AU - Richardson, Paul

AU - Wilmer, Friederike

AU - Munro, Cheryl

AU - Hawkins, Trevor L.

AU - Sepp, Tiina

AU - Ali, Johari B.M.

AU - Ward, Susannah

AU - Green, Andrew J.

AU - Yates, John R.W.

AU - Kwiatkowska, Jolanta

AU - Henske, Elizabeth P.

AU - Short, M. Priscilla

AU - Haines, Jonathan H.

AU - Jozwiak, Sergiusz

AU - Kwiatkowski, David J.

PY - 1997/8/8

Y1 - 1997/8/8

N2 - 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 8.6kilobase 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 allale was found in a TSC- associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.

AB - 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 8.6kilobase 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 allale was found in a TSC- associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.

UR - http://www.scopus.com/inward/record.url?scp=0030879277&partnerID=8YFLogxK

U2 - 10.1126/science.277.5327.805

DO - 10.1126/science.277.5327.805

M3 - Article

C2 - 9242607

AN - SCOPUS:0030879277

SN - 0036-8075

VL - 277

SP - 805

EP - 808

JO - Science

JF - Science

IS - 5327

ER -

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

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