Abstract
Linkage of at least two complementation groups of ataxia-telangiectasia (AT) to the chromosomal region 11q23 is now well established. We provide here an 18-point map of the surrounding genomic region, derived from linkage analysis of 40 CEPH families. On the basis of this map, 111 AT families from Turkey, Israel, England, Italy, and the United States were analyzed, localizing the AT gene(s) to an 8-cM sex-averaged interval between the markers STMY and D11S132/NCAM. A new Monte Carlo method for computing approximate location scores estimates this location as being at least 108 times more likely than the next most likely interval, with a support interval midway between STMY and D11S132 that is either 5.2 cM (sex-averaged and conservatively based on 3 lod scores from the maximum-location score) or 2.8 cM (male specific, based on a 2.72:1 interval-specific female-to-male distance ratio).
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- Budarf M., Sellinger B., Griffin C., Emanuel B. S. Comparative mapping of the constitutional and tumor-associated 11;22 translocations. Am J Hum Genet. 1989 Jul;45(1):128–139. [PMC free article] [PubMed] [Google Scholar]
- Carlson M., Nakamura Y., Krapcho K., Payson R., O'Connell P., Leppert M., Lathrop G. M., Lalouel J. M., White R. Isolation and mapping of a polymorphic DNA sequence MCT128.1 on chromosome 11 [D11S285]. Nucleic Acids Res. 1988 Jan 11;16(1):378–378. doi: 10.1093/nar/16.1.378. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Charmley P., Foroud T., Wei S., Concannon P., Weeks D. E., Lange K., Gatti R. A. A primary linkage map of the human chromosome 11q22-23 region. Genomics. 1990 Feb;6(2):316–323. doi: 10.1016/0888-7543(90)90572-c. [DOI] [PubMed] [Google Scholar]
- Charmley P., Nguyen J., Tedder T. F., Gatti R. A. A frequent human CD20 (B1) differentiation antigen DNA polymorphism detected with MspI is located near 11q12-13. Nucleic Acids Res. 1990 Jan 11;18(1):207–207. doi: 10.1093/nar/18.1.207. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Charmley P., Nguyen J., Wei S., Gatti R. A. Genetic linkage analysis and homology relationships of genes located on human chromosome 11q. Genomics. 1991 Jul;10(3):608–617. doi: 10.1016/0888-7543(91)90443-i. [DOI] [PubMed] [Google Scholar]
- Charmley P., Sanal O., Wei S., Chou A., Terhorst C., Gatti R. A. Human T-cell receptor CD3-epsilon (CD3E)/TaqI DNA polymorphism. Nucleic Acids Res. 1989 Mar 25;17(6):2374–2374. doi: 10.1093/nar/17.6.2374. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Concannon P., Malhotra U., Charmley P., Reynolds J., Lange K., Gatti R. A. The ataxia-telangiectasia gene (ATA) on chromosome II is distinct from the ETS-1 gene. Am J Hum Genet. 1990 Apr;46(4):789–794. [PMC free article] [PubMed] [Google Scholar]
- Curry C. J., O'Lague P., Tsai J., Hutchison H. T., Jaspers N. G., Wara D., Gatti R. A., Hutchinson H. T. ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Am J Hum Genet. 1989 Aug;45(2):270–275. [PMC free article] [PubMed] [Google Scholar]
- Dausset J., Cann H., Cohen D., Lathrop M., Lalouel J. M., White R. Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. Genomics. 1990 Mar;6(3):575–577. doi: 10.1016/0888-7543(90)90491-c. [DOI] [PubMed] [Google Scholar]
- Dausset J. Le centre d'étude du polymorphisme humain. Presse Med. 1986 Oct 18;15(36):1801–1802. [PubMed] [Google Scholar]
- Dickson G., Gower H. J., Barton C. H., Prentice H. M., Elsom V. L., Moore S. E., Cox R. D., Quinn C., Putt W., Walsh F. S. Human muscle neural cell adhesion molecule (N-CAM): identification of a muscle-specific sequence in the extracellular domain. Cell. 1987 Sep 25;50(7):1119–1130. doi: 10.1016/0092-8674(87)90178-4. [DOI] [PubMed] [Google Scholar]
- Donis-Keller H., Green P., Helms C., Cartinhour S., Weiffenbach B., Stephens K., Keith T. P., Bowden D. W., Smith D. R., Lander E. S. A genetic linkage map of the human genome. Cell. 1987 Oct 23;51(2):319–337. doi: 10.1016/0092-8674(87)90158-9. [DOI] [PubMed] [Google Scholar]
- Gatti R. A., Berkel I., Boder E., Braedt G., Charmley P., Concannon P., Ersoy F., Foroud T., Jaspers N. G., Lange K. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. 1988 Dec 8;336(6199):577–580. doi: 10.1038/336577a0. [DOI] [PubMed] [Google Scholar]
- Gatti R. A., Shaked R., Wei S., Koyama M., Salser W., Silver J. DNA polymorphism in the human Thy-1 gene. Hum Immunol. 1988 Jul;22(3):145–150. doi: 10.1016/0198-8859(88)90023-7. [DOI] [PubMed] [Google Scholar]
- Gold D. P., Puck J. M., Pettey C. L., Cho M., Coligan J., Woody J. N., Terhorst C. Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex. Nature. 1986 May 22;321(6068):431–434. doi: 10.1038/321431a0. [DOI] [PubMed] [Google Scholar]
- Goridis C., Hirn M., Santoni M. J., Gennarini G., Deagostini-Bazin H., Jordan B. R., Kiefer M., Steinmetz M. Isolation of mouse N-CAM-related cDNA: detection and cloning using monoclonal antibodies. EMBO J. 1985 Mar;4(3):631–635. doi: 10.1002/j.1460-2075.1985.tb03676.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Grandy D. K., Litt M., Allen L., Bunzow J. R., Marchionni M., Makam H., Reed L., Magenis R. E., Civelli O. The human dopamine D2 receptor gene is located on chromosome 11 at q22-q23 and identifies a TaqI RFLP. Am J Hum Genet. 1989 Nov;45(5):778–785. [PMC free article] [PubMed] [Google Scholar]
- Jaspers N. G., Gatti R. A., Baan C., Linssen P. C., Bootsma D. Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet. 1988;49(4):259–263. doi: 10.1159/000132673. [DOI] [PubMed] [Google Scholar]
- Julier C., Nakamura Y., Lathrop G. M., Lalouel J. M., White R. Isolation and mapping of a polymorphic DNA sequence (HBI18P1) on chromosome 11 [D11S147]. Nucleic Acids Res. 1989 Nov 25;17(22):9510–9510. doi: 10.1093/nar/17.22.9510. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Julier C., Nakamura Y., Lathrop M., O'Connell P., Leppert M., Litt M., Mohandas T., Lalouel J. M., White R. A detailed genetic map of the long arm of chromosome 11. Genomics. 1990 Jul;7(3):335–345. doi: 10.1016/0888-7543(90)90167-s. [DOI] [PubMed] [Google Scholar]
- Kerckaert J. P., Dozier C., Loucheux-Lefebvre M. H., Stehelin D. Sst I RFLP linked to the human ets-1 gene. Nucleic Acids Res. 1987 Jul 24;15(14):5905–5905. doi: 10.1093/nar/15.14.5905. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Komatsu K., Kodama S., Okumura Y., Koi M., Oshimura M. Restoration of radiation resistance in ataxia telangiectasia cells by the introduction of normal human chromosome 11. Mutat Res. 1990 Mar;235(2):59–63. doi: 10.1016/0921-8777(90)90058-d. [DOI] [PubMed] [Google Scholar]
- Krissansen G. W., Owen M. J., Verbi W., Crumpton M. J. Primary structure of the T3 gamma subunit of the T3/T cell antigen receptor complex deduced from cDNA sequences: evolution of the T3 gamma and delta subunits. EMBO J. 1986 Aug;5(8):1799–1808. doi: 10.1002/j.1460-2075.1986.tb04429.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kwon B. S., Haq A. K., Pomerantz S. H., Halaban R. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. Proc Natl Acad Sci U S A. 1987 Nov;84(21):7473–7477. doi: 10.1073/pnas.84.21.7473. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lange K., Goradia T. M. An algorithm for automatic genotype elimination. Am J Hum Genet. 1987 Mar;40(3):250–256. [PMC free article] [PubMed] [Google Scholar]
- Lange K., Sobel E. A random walk method for computing genetic location scores. Am J Hum Genet. 1991 Dec;49(6):1320–1334. [PMC free article] [PubMed] [Google Scholar]
- Lange K., Weeks D. E. Efficient computation of lod scores: genotype elimination, genotype redefinition, and hybrid maximum likelihood algorithms. Ann Hum Genet. 1989 Jan;53(Pt 1):67–83. doi: 10.1111/j.1469-1809.1989.tb01122.x. [DOI] [PubMed] [Google Scholar]
- Lange K., Weeks D., Boehnke M. Programs for Pedigree Analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol. 1988;5(6):471–472. doi: 10.1002/gepi.1370050611. [DOI] [PubMed] [Google Scholar]
- Lichter P., Tang C. J., Call K., Hermanson G., Evans G. A., Housman D., Ward D. C. High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science. 1990 Jan 5;247(4938):64–69. doi: 10.1126/science.2294592. [DOI] [PubMed] [Google Scholar]
- Llewellyn D. H., Kalsheker N. A., Elder G. H., Harrison P. R., Chretien S., Goossens M. A MspI polymorphism for the human porphobilinogen deaminase gene. Nucleic Acids Res. 1987 Feb 11;15(3):1349–1349. doi: 10.1093/nar/15.3.1349. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Malhotra U., Concannon P. Human T-cell receptor CD3-delta (CD3D)/MspI DNA polymorphism. Nucleic Acids Res. 1989 Mar 25;17(6):2373–2373. doi: 10.1093/nar/17.6.2373. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Malhotra U., Concannon P. Human T-cell receptor CD3-delta (CD3D)/MspI DNA polymorphism. Nucleic Acids Res. 1989 Mar 25;17(6):2373–2373. doi: 10.1093/nar/17.6.2373. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Maslen C. L., Jones C., Glaser T., Magenis R. E., Sheehy R., Kellogg J., Litt M. Seven polymorphic loci mapping to human chromosomal region 11q22-qter. Genomics. 1988 Jan;2(1):66–75. doi: 10.1016/0888-7543(88)90110-3. [DOI] [PubMed] [Google Scholar]
- McConville C. M., Formstone C. J., Hernandez D., Thick J., Taylor A. M. Fine mapping of the chromosome 11q22-23 region using PFGE, linkage and haplotype analysis; localization of the gene for ataxia telangiectasia to a 5cM region flanked by NCAM/DRD2 and STMY/CJ52.75, phi 2.22. Nucleic Acids Res. 1990 Aug 11;18(15):4335–4343. doi: 10.1093/nar/18.15.4335. [DOI] [PMC free article] [PubMed] [Google Scholar]
- McConville C. M., Woods C. G., Farrall M., Metcalfe J. A., Taylor A. M. Analysis of 7 polymorphic markers at chromosome 11q22-23 in 35 ataxia telangiectasia families; further evidence of linkage. Hum Genet. 1990 Jul;85(2):215–220. doi: 10.1007/BF00193199. [DOI] [PubMed] [Google Scholar]
- Mietus-Snyder M., Charmley P., Korf B., Ladias J. A., Gatti R. A., Karathanasis S. K. Genetic linkage of the human apolipoprotein AI-CIII-AIV gene cluster and the neural cell adhesion molecule (NCAM) gene. Genomics. 1990 Aug;7(4):633–637. doi: 10.1016/0888-7543(90)90211-c. [DOI] [PubMed] [Google Scholar]
- Nakamura Y., Leppert M., O'Connell P., Wolff R., Holm T., Culver M., Martin C., Fujimoto E., Hoff M., Kumlin E. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science. 1987 Mar 27;235(4796):1616–1622. doi: 10.1126/science.3029872. [DOI] [PubMed] [Google Scholar]
- Reed K. C., Mann D. A. Rapid transfer of DNA from agarose gels to nylon membranes. Nucleic Acids Res. 1985 Oct 25;13(20):7207–7221. doi: 10.1093/nar/13.20.7207. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sacchi N., Watson D. K., Guerts van Kessel A. H., Hagemeijer A., Kersey J., Drabkin H. D., Patterson D., Papas T. S. Hu-ets-1 and Hu-ets-2 genes are transposed in acute leukemias with (4;11) and (8;21) translocations. Science. 1986 Jan 24;231(4736):379–382. doi: 10.1126/science.3941901. [DOI] [PubMed] [Google Scholar]
- Sanal O., Wei S., Foroud T., Malhotra U., Concannon P., Charmley P., Salser W., Lange K., Gatti R. A. Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region. Am J Hum Genet. 1990 Nov;47(5):860–866. [PMC free article] [PubMed] [Google Scholar]
- Spritz R., Strunk K., Oetting W., King R. RFLP for TaqI at the human tyrosinase locus. Nucleic Acids Res. 1988 Oct 25;16(20):9890–9890. doi: 10.1093/nar/16.20.9890. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Spurr N. K., Gough A. C., Gosden J., Rout D., Porteous D. J., van Heyningen V., Docherty A. J. Restriction fragment length polymorphism analysis and assignment of the metalloproteinases stromelysin and collagenase to the long arm of chromosome 11. Genomics. 1988 Feb;2(2):119–127. doi: 10.1016/0888-7543(88)90093-6. [DOI] [PubMed] [Google Scholar]
- Tedder T. F., Streuli M., Schlossman S. F., Saito H. Isolation and structure of a cDNA encoding the B1 (CD20) cell-surface antigen of human B lymphocytes. Proc Natl Acad Sci U S A. 1988 Jan;85(1):208–212. doi: 10.1073/pnas.85.1.208. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Warnich L., Kotze M. J., Retief A. E., Dietzsch E., Fox M. F., Kotze G. M., Nicholson D. L., Retief E., Oosthuizen C. J. An anonymous human single copy genomic clone, D11S29 (L7) at 11q23, identifies a moderately frequent RFLP. Nucleic Acids Res. 1986 Feb 25;14(4):1920–1920. doi: 10.1093/nar/14.4.1920. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Weeks D. E., Lange K. Preliminary ranking procedures for multilocus ordering. Genomics. 1987 Nov;1(3):236–242. doi: 10.1016/0888-7543(87)90050-4. [DOI] [PubMed] [Google Scholar]
- Wei S., Rocchi M., Archidiacono N., Sacchi N., Romeo G., Gatti R. A. Physical mapping of the human chromosome 11q23 region containing the ataxia-telangiectasia locus. Cancer Genet Cytogenet. 1990 May;46(1):1–8. doi: 10.1016/0165-4608(90)90002-r. [DOI] [PubMed] [Google Scholar]
- Young B. R., Painter R. B. Radioresistant DNA synthesis and human genetic diseases. Hum Genet. 1989 May;82(2):113–117. doi: 10.1007/BF00284040. [DOI] [PubMed] [Google Scholar]
- Ziv Y., Rotman G., Frydman M., Dagan J., Cohen T., Foroud T., Gatti R. A., Shiloh Y. The ATC (ataxia-telangiectasia complementation group C) locus localizes to 11q22-q23. Genomics. 1991 Feb;9(2):373–375. doi: 10.1016/0888-7543(91)90268-j. [DOI] [PubMed] [Google Scholar]
- van den Elsen P., Shepley B. A., Borst J., Coligan J. E., Markham A. F., Orkin S., Terhorst C. Isolation of cDNA clones encoding the 20K T3 glycoprotein of human T-cell receptor complex. 1984 Nov 29-Dec 5Nature. 312(5993):413–418. doi: 10.1038/312413a0. [DOI] [PubMed] [Google Scholar]