A single ataxia telangiectasia gene with a product similar to PI-3 kinase

Kinneret Savitsky; Anat Bar-Shira; Shlomit Gilad; Galit Rotman; Yael Ziv; Lina Vanagaite; Danilo A. Tagle; Sara Smith; Tamar Uziel; Sharon Sfez; Maya Ashkenazi; Iris Pecker; Moshe Frydman; Reli Harnik; Sankhavaram R. Patanjali; Andrew Simmons; Gregory A. Clines; Adam Sartiel; Richard A. Gatti; Luciana Chessa; Ozden Sanal; Martin F. Lavin; N. G.J. Jaspers; A. Malcolm R. Taylor; Colin F. Arlett; Toru Miki; Sherman M. Weissman; Michael Lovett; Francis S. Collins; Yosef Shiloh

doi:10.1126/science.7792600

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

Kinneret Savitsky, Anat Bar-Shira, Shlomit Gilad, Galit Rotman, Yael Ziv, Lina Vanagaite, Danilo A. Tagle, Sara Smith, Tamar Uziel, Sharon Sfez, Maya Ashkenazi, Iris Pecker, Moshe Frydman, Reli Harnik, Sankhavaram R. Patanjali, Andrew Simmons, Gregory A. Clines, Adam Sartiel, Richard A. Gatti, Luciana ChessaOzden Sanal, Martin F. Lavin, N. G.J. Jaspers, A. Malcolm R. Taylor, Colin F. Arlett, Toru Miki, Sherman M. Weissman, Michael Lovett, Francis S. Collins, Yosef Shiloh

Human Molecular Genetics Biochemistry

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

Abstract

A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation sensitivity, and cell cycle abnormalities. The disease is genetically heterogeneous, with four complementation groups that have been suspected to represent different genes. ATM, which has a transcript of 12 kilobases, was found to be mutated in AT patients from all complementation groups, indicating that it is probably the sole gene responsible for this disorder. A partial ATM complementary DNA clone of 5.9 kilobases encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3′ kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control. The discovery of ATM should enhance understanding of AT and related syndromes and may allow the identification of AT heterozygotes, who are at increased risk of cancer.

Original language	English
Pages (from-to)	1749-1753
Number of pages	5
Journal	Science
Volume	268
Issue number	5218
DOIs	https://doi.org/10.1126/science.7792600
State	Published - 1995

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Savitsky, K., Bar-Shira, A., Gilad, S., Rotman, G., Ziv, Y., Vanagaite, L., Tagle, D. A., Smith, S., Uziel, T., Sfez, S., Ashkenazi, M., Pecker, I., Frydman, M., Harnik, R., Patanjali, S. R., Simmons, A., Clines, G. A., Sartiel, A., Gatti, R. A., ... Shiloh, Y. (1995). A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science, 268(5218), 1749-1753. https://doi.org/10.1126/science.7792600

@article{3f5995301ef5418dad47b2239745eaea,

title = "A single ataxia telangiectasia gene with a product similar to PI-3 kinase",

abstract = "A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation sensitivity, and cell cycle abnormalities. The disease is genetically heterogeneous, with four complementation groups that have been suspected to represent different genes. ATM, which has a transcript of 12 kilobases, was found to be mutated in AT patients from all complementation groups, indicating that it is probably the sole gene responsible for this disorder. A partial ATM complementary DNA clone of 5.9 kilobases encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3′ kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control. The discovery of ATM should enhance understanding of AT and related syndromes and may allow the identification of AT heterozygotes, who are at increased risk of cancer.",

author = "Kinneret Savitsky and Anat Bar-Shira and Shlomit Gilad and Galit Rotman and Yael Ziv and Lina Vanagaite and Tagle, {Danilo A.} and Sara Smith and Tamar Uziel and Sharon Sfez and Maya Ashkenazi and Iris Pecker and Moshe Frydman and Reli Harnik and Patanjali, {Sankhavaram R.} and Andrew Simmons and Clines, {Gregory A.} and Adam Sartiel and Gatti, {Richard A.} and Luciana Chessa and Ozden Sanal and Lavin, {Martin F.} and Jaspers, {N. G.J.} and Taylor, {A. Malcolm R.} and Arlett, {Colin F.} and Toru Miki and Weissman, {Sherman M.} and Michael Lovett and Collins, {Francis S.} and Yosef Shiloh",

year = "1995",

doi = "10.1126/science.7792600",

language = "אנגלית",

volume = "268",

pages = "1749--1753",

journal = "Science",

issn = "0036-8075",

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

number = "5218",

}

Savitsky, K, Bar-Shira, A, Gilad, S, Rotman, G, Ziv, Y, Vanagaite, L, Tagle, DA, Smith, S, Uziel, T, Sfez, S, Ashkenazi, M, Pecker, I, Frydman, M, Harnik, R, Patanjali, SR, Simmons, A, Clines, GA, Sartiel, A, Gatti, RA, Chessa, L, Sanal, O, Lavin, MF, Jaspers, NGJ, Taylor, AMR, Arlett, CF, Miki, T, Weissman, SM, Lovett, M, Collins, FS & Shiloh, Y 1995, 'A single ataxia telangiectasia gene with a product similar to PI-3 kinase', Science, vol. 268, no. 5218, pp. 1749-1753. https://doi.org/10.1126/science.7792600

TY - JOUR

T1 - A single ataxia telangiectasia gene with a product similar to PI-3 kinase

AU - Savitsky, Kinneret

AU - Bar-Shira, Anat

AU - Gilad, Shlomit

AU - Rotman, Galit

AU - Ziv, Yael

AU - Vanagaite, Lina

AU - Tagle, Danilo A.

AU - Smith, Sara

AU - Uziel, Tamar

AU - Sfez, Sharon

AU - Ashkenazi, Maya

AU - Pecker, Iris

AU - Frydman, Moshe

AU - Harnik, Reli

AU - Patanjali, Sankhavaram R.

AU - Simmons, Andrew

AU - Clines, Gregory A.

AU - Sartiel, Adam

AU - Gatti, Richard A.

AU - Chessa, Luciana

AU - Sanal, Ozden

AU - Lavin, Martin F.

AU - Jaspers, N. G.J.

AU - Taylor, A. Malcolm R.

AU - Arlett, Colin F.

AU - Miki, Toru

AU - Weissman, Sherman M.

AU - Lovett, Michael

AU - Collins, Francis S.

AU - Shiloh, Yosef

PY - 1995

Y1 - 1995

N2 - A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation sensitivity, and cell cycle abnormalities. The disease is genetically heterogeneous, with four complementation groups that have been suspected to represent different genes. ATM, which has a transcript of 12 kilobases, was found to be mutated in AT patients from all complementation groups, indicating that it is probably the sole gene responsible for this disorder. A partial ATM complementary DNA clone of 5.9 kilobases encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3′ kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control. The discovery of ATM should enhance understanding of AT and related syndromes and may allow the identification of AT heterozygotes, who are at increased risk of cancer.

AB - A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation sensitivity, and cell cycle abnormalities. The disease is genetically heterogeneous, with four complementation groups that have been suspected to represent different genes. ATM, which has a transcript of 12 kilobases, was found to be mutated in AT patients from all complementation groups, indicating that it is probably the sole gene responsible for this disorder. A partial ATM complementary DNA clone of 5.9 kilobases encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3′ kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control. The discovery of ATM should enhance understanding of AT and related syndromes and may allow the identification of AT heterozygotes, who are at increased risk of cancer.

UR - http://www.scopus.com/inward/record.url?scp=0029057336&partnerID=8YFLogxK

U2 - 10.1126/science.7792600

DO - 10.1126/science.7792600

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

AN - SCOPUS:0029057336

VL - 268

SP - 1749

EP - 1753

JO - Science

JF - Science

SN - 0036-8075

IS - 5218

ER -

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

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