New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy

Human Mutation

Volumn 14, Issue 2, 1999, Pages 156-162

  Castellvi Bel S ^a   Sheikhavandi, S ^a   Telatar, M ^a   Tai, L Q ^a   Hwang, M ^a   Wang, Z ^a   Yang, Z ^a   Cheng, R ^a   Gatti, R A ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Ataxia telangiectasia; ATM; Mutation screening; Polymorphisms; SSCP analysis

Indexed keywords

DNA;

ALLELE; ARTICLE; ATAXIA TELANGIECTASIA; DNA SEQUENCE; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; ETHNIC GROUPS; EXONS; GENETIC TECHNIQUES; HUMANS; MUTATION; PEPTIDE CHAIN TERMINATION, TRANSLATIONAL; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-SERINE-THREONINE KINASES; PROTEINS; TUMOR SUPPRESSOR PROTEINS; UNITED STATES;

EID: 0345109249     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:2<156::AID-HUMU7>3.0.CO;2-E     Document Type: Article

References (25)

1. ATM mutations web site: http://www.vmmc.org/vmrc/atm.htm.
2. Byrd PJ, McConville CM, Cooper P, Parkhill J, Stankovic T, McGuire GM, Thick JA, Taylor AMR. 1996. Mutations revealed by sequencing the 5′ half of the gene for ataxia-telangiectasia. Hum Mol Genet 5:145-149.
3. Chen G, Lee EYHP. 1996. The product of the ATM gene is a 370-kDa nuclear phosphoprotein. J Biol Chem 271:33693-33697.
4. Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, Nunes V, Ferec C, Estivill X. 1995. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J MeJ 332:1475-1480.
5. Concannon P, Gatti RA. 1997. Diversity of ATM gene mutations in patients with ataxia-telangiectasia. Hum Mutat 10:100-107.
6. Dausset J, Cann H, Cohen D, Lathrop M, Lalouel J-M, White T. 1990. Centre d'Etude du Polymoprhisme Humain (CEPH): collaborative geneetic mapping of the human genome. Genomics 6:575-577.
7. Dork T, Westermann S, Dittrich O, Twardowski M, Karstens JH, Schmidtke J, Stuhrmann M. 1997. A frequent polymorphism of the gene mutated in ataxia-telangiectasia. Mol Cell Probes 11:71-73.
8. Estivill X. 1996. Complexity in a monogenic disease. Nature Genet 12:350.
9. Gatti RA. 1998. Ataxia-telangiectasia. In: Vogelstein B, Kinzler KW, editors. Genetic basis of human cancer. New York: McGraw-Hill. p 275-300.
10. Grompe M. 1993. The rapid detection of known mutations in nucleic acids. Nature Genet 5:111-117.
11. Lange K, Borrensen AL, Chen X, Chessa L, Chiplunkar S, Concannon P, Dandekar S, Gerken S, Lange K, Liang T, McConville C, Polakow J, Porras O, Rotman G, Sanal O, Sheikhavandi S, Shiloh J, Sobel E, Taylor M, Telatar M, Teraoka S, Tolun A, Udar N, Uhrhammer N, Vanagaite L, Wang Z, Wapelhorst B, Wright J, Yang HM, Yang L, Ziv Y, Gatti RA. 1995. Localization of an ataxia-telangiectasia to a ∼ 500 kb interval on chromosome 11q23.1: linkage analysis of 176 families in an international consortium. Am J Hum Genet 57:112-119.
12. Makridakis N, Ross RK, Pike MC, Chang L, Stanczyk FZ, Kolonel LN, Shi C-Y, Yu MC, Henerson BE, Reichardt JKV 1997. A prevalent missense substitution that modulates activity of prostatic steroid 5α-reductase. Cancer Res 57:1020-1022.
13. McConville C, Stankovic T, Byrd P, McGuire G, Yao Q, Lennox G, annd Taylor M. 1996. Mutations associated with variant phenotypes in ataxia-telangiectasia. Am J Hum Genet 59:320-330.
14. Orita M, Iwahana H, Kazanawa H, Hayashi K, Sekiya T. 1989. Detection of polymosphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770.
15. Pedemonte S, Sciallero S, Gismondi V, Stagnaro P, Biticchi R, Haeouaine A, Bonelli L, Nicolo G, Groden J, Bruzzi P, Aste H, Varesco L. 1998. Novel germline APC variants in patients with multiple adenomas. Genes Chromosomes Cancer 22:257-267.
16. Platzer M, Rotman G, Bauer D, Uziel T, Savitsky K, Bar-Shira A, Gilad S, Shiloh Y, Rosenthal A. 1997. Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene. Genome Res 7:592-605.
17. Sasaki T, Tian H, Kukita Y, Inazuka M, Tahira T, Imai T, Yamauchi M, Saito T, Hori T, Hashimoto-Tamaoki T, Komatasu K, Nikaido O, Hayashi K. 1998. ATM mutations in patients with ataxia-telangiectasia screened by a hierarchical strategy. Hum Mutat 12:186-195.
18. 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 a PI-3 kinase. Science 268:1749-1753.
19. Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matuszkiewicz E, Lavin M, Shiloh Y, Concannon P, Good RA, Gatti RA. 1996. Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. Am J Hum Genet 59:40-44.
20. Telatar M, Teraoka S, Wang Z, Chun H, Liang T, Castellvi-Bel S, Udar N, Borrensen AL, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P, Gatti RA. 1998a. Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Am J Hum Genet 62:86-97.
21. Telatar M, Castellvi-Bel S, Wang Z, Tai LQ, Sheikhavandi S, Regueiro JR, Porras O, Gatti RA. 1998b. A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia. Mol Genet Metab 64:36-43.
22. Teraoka S, Telatar M, Becker-Catania S, Liang T, Onengut S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P. 1999. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and phenotypic consequences. Amer J Hum Genet 64:1617-1631.
23. Uhrhammer N, Lange E, Porras O, Naeim A, Chen X, Sheikhavandi S, Chiplunkar S, Yang L, Dandekar S, Liang T, Patel N, Teraoka S, Udar N, Calvo N, Concannon P, Lange K, Gatti RA. 1995. Sublocalization of an ataxia-telangiectasia gene distal to D11S384 by ancestral haplotyping in Costa Rican families. Am J Hum Genet 57:103-111.
24. Vorechovsky I, Luo L, Lindbloom L, Negrini M, Webster ADB, Croce CM, Hammarstrom L. 1996. ATM mutations in cancer families. Cancer Res 56:4130-4133.
25. Wright J, Teraoka S, Onegut S, Tolun A, Gatti RA, Ochs HD, Concannon P. 1996. A high frequency of distinct ATM mutations in ataxia-telangiectasia. Am J Hum Genet 59:839-846.