Literature DB >> 7836853

Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an approximately 850 kb region on chromosome 11q23.1.

R A Gatti1, E Lange, G Rotman, X Chen, N Uhrhammer, T Liang, S Chiplunkar, L Yang, N Udar, S Dandekar, S Sheikhavandi, Z Wang, H M Yang, J Polikow, M Elashoff, M Teletar, O Sanal, L Chessa, C McConville, M Taylor, Y Shiloh, O Porras, A L Borresen, R D Wegner, C Curry, S Gerken, K Lange, P Concannon.   

Abstract

The genotyping data given localize the major A-T gene to an approximately 850 kb region. They also localize the group A A-T gene (ATA) to a region that contains the approximately 850 kb region. They are compatible with linking A-TFresno to 11q22-23. NBS-V2 does not link to this region. Four non-linking families contain only single affecteds, suggesting that these may be spontaneous mutations rather than evidence for an A-T gene outside the 11q22-23 region. Finally, two other non-linking families contain recombinant haplotypes that are compatible with a second A-T gene at 11q22-23, slightly distal to the approximately 850 kb region. However, convincing evidence for a second gene is still lacking.

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Year:  1994        PMID: 7836853

Source DB:  PubMed          Journal:  Int J Radiat Biol        ISSN: 0955-3002            Impact factor:   2.694


  9 in total

1.  Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

Authors:  M Telatar; Z Wang; N Udar; T Liang; E Bernatowska-Matuszkiewicz; M Lavin; Y Shiloh; P Concannon; R A Good; R A Gatti
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.

Authors:  Peiyee Lee; Nathan T Martin; Kotoka Nakamura; Soheila Azghadi; Mandana Amiri; Uri Ben-David; Susan Perlman; Richard A Gatti; Hailiang Hu; William E Lowry
Journal:  Nat Commun       Date:  2013       Impact factor: 14.919

3.  CAND3: A ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 1lq23.1.

Authors:  X Chen; L Yang; N Udar; T Liang; N Uhrhammer; S Xu; J O Bay; Z Wang; S Dandakar; S Chiplunkar; I Klisak; M Telatar; H Yang; P Concannon; R A Gatti
Journal:  Mamm Genome       Date:  1997-02       Impact factor: 2.957

Review 4.  Regulation of the cell cycle following DNA damage in normal and Ataxia telangiectasia cells.

Authors:  H D Lohrer
Journal:  Experientia       Date:  1996-04-15

5.  Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

Authors:  M Telatar; S Teraoka; Z Wang; H H Chun; T Liang; S Castellvi-Bel; N Udar; A L Borresen-Dale; L Chessa; E Bernatowska-Matuszkiewicz; O Porras; M Watanabe; A Junker; P Concannon; R A Gatti
Journal:  Am J Hum Genet       Date:  1998-01       Impact factor: 11.025

6.  Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium.

Authors:  E Lange; A L Borresen; X Chen; L Chessa; S Chiplunkar; P Concannon; S Dandekar; S Gerken; K Lange; T Liang
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

7.  Sublocalization of an ataxia-telangiectasia gene distal to D11S384 by ancestral haplotyping in Costa Rican families.

Authors:  N Uhrhammer; E Lange; O Porras; A Naeim; X Chen; S Sheikhavandi; S Chiplunkar; L Yang; S Dandekar; T Liang
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

8.  Genetic variation in p53 and ATM haplotypes and risk of glioma and meningioma.

Authors:  Beatrice Susanne Malmer; Maria Feychting; Stefan Lönn; Sara Lindström; Henrik Grönberg; Anders Ahlbom; Judy Schwartzbaum; Anssi Auvinen; Helle Collatz-Christensen; Christoffer Johansen; Anne Kiuru; Nadejda Mudie; Tiina Salminen; Minouk J Schoemaker; Anthony J Swerdlow; Roger Henriksson
Journal:  J Neurooncol       Date:  2006-12-07       Impact factor: 4.506

Review 9.  Autosomal recessive cerebellar ataxias.

Authors:  Francesc Palau; Carmen Espinós
Journal:  Orphanet J Rare Dis       Date:  2006-11-17       Impact factor: 4.123

  9 in total

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