Localization of an ataxia-telangiectasia gene to chromosome 11q22–23

@article{Gatti1988LocalizationOA,
  title={Localization of an ataxia-telangiectasia gene to chromosome 11q22–23},
  author={Richard A. Gatti and {\'I}zzet Berkel and Elena Boder and Gary Braedt and Patrick Charmley and Patrick Concannon and F{\'u}gen Ersoy and Tatiana M. Foroud and Nicholas G. J. Jaspers and Kenneth Lange and G. M. Lathrop and M. Leppert and Yusuke Nakamura and P. O'Connell and Malcolm C. Paterson and Winston A. Salser and Ozden Sanal and Jack Silver and Robert S. Sparkes and E Susi and Daniel E. Weeks and Shan Wei and Raymond White and Freda Yoder},
  journal={Nature},
  year={1988},
  volume={336},
  pages={577-580}
}
Ataxia-telangiectasia (AT) is a human autosomal recessive disorder of childhood1,2 characterized by: (1) progressive cerebellar ataxia with degeneration of Purkinje cells; (2) hypersensitivity of fibroblasts and lymphocytes to ionizing radiation3; (3) a 61-fold and 184-fold increased cancer incidence in white and black patients, respectively4; (4) non-random chromosomal rearrangements in lymphocytes; (5) thymic hypoplasia with cellular and humoral (IgA and IgG2) immunodeficiencies; (6) elevated… Expand
Precise Localization of a Gene Responsible for Ataxia-Telangiectasia on Chromosome 11q
TLDR
Although the disease is clinically indistinguishable in the four groups, radiation-sensitivity is rendered normal by fusion of cells deriving from A-T patients from different groups (whereas fusion of Cells from patients from the same group has no effect). Expand
Ataxia-telangiectasia, an evolving phenotype.
TLDR
With the aid of molecular testing, A-T can now be distinguished from other autosomal recessive cerebellar ataxias (ARCAs) such as Friedreich ataxia, Mre11 deficiency (AT-like disease), and the oculomotor apraxias 1 and 2 (senataxin deficiency). Expand
Localizing the genes for ataxia-telangiectasia: a human model for inherited cancer susceptibility.
  • R. Gatti
  • Biology, Medicine
  • Advances in cancer research
  • 1991
TLDR
This chapter provides other approaches, such as comparative mapping and syntenic groups, high-resolution karyotyping, and pulsed field gel electrophoresis, which involves localizing the AT gene(s) by linkage analysis, isolating and analyzing the gene, and thereby identifying the defective protein product. Expand
ATM mutations in cancer families.
TLDR
The first three germ-line mutations in ATM are identified by screening of breast cancer patients using single-strand conformation polymorphism analysis and it is demonstrated that an A-T allele confers cancer susceptibility in heterozygotes. Expand
Ataxia telangiectasia gene mutations in leukaemia and lymphoma
  • J. Boultwood
  • Biology, Medicine
  • Journal of clinical pathology
  • 2001
TLDR
The presence of inactivating mutations in some patients with T-PLL, B-CLL, and MCL establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. Expand
The ataxia telangiectasia gene in familial and sporadic cancer.
  • M. Yuille, L. Coignet
  • Biology, Medicine
  • Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer
  • 1998
TLDR
It is concluded that the ATM gene can act as a tumour suppressor in the development of sporadic T-PLL, and the finding of a surfeit of mutations within ATM may reflect the involvement of the gene at more than one step in tumorigenesis. Expand
The ets-1 gene and ataxia telangiectasia.
TLDR
The hypothesis that an allele of ets-1 may be responsible for AT 2 is tested using the same set of AT families in which linkage to Fhy-I was originally demonstrated and a restriction fragment length polymorphisrn (RFLP) detected with an eTS-I gene probe. Expand
A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA
A taxia-telangiectasia (A-T) is a multisystem autosomal recessive disorder, with an estimated frequency of 1/40 000-1/100 000 live births.1 The ataxia-telangiectasia mutated gene ( ATM ), located onExpand
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
TLDR
It is concluded that certain "A-T variant" phenotypes represent ATM mutations, including some of those without telangiectasia, which extends the range of phenotypes associated with ATM mutations. Expand
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
TLDR
A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia was identified by positional cloning on chromosome 11q22-23 and 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. Expand
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References

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Breast and other cancers in families with ataxia-telangiectasia.
TLDR
It is concluded that heterozygous carriers of the gene for ataxia-telangiectasia have an excess risk of cancer, particularly breast cancer in women. Expand
Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain.
TLDR
Mortality and cancer incidence in the families of 67 patients with ataxia-telangiectasia and 48 patients with xeroderma pigmentosum resident in Britain and no excess mortality from malignant neoplasms was found in the grandparents. Expand
The incidence and gene frequency of ataxia-telangiectasia in the United States.
TLDR
Pedigree analysis, which estimates the gene frequency from the proportion of affected close blood relatives of homozygous probands, estimated the most likely gene frequency to be .007 on the assumption that A-T is a single homogeneous genetic syndrome, with 95% confidence limits of .0012-.02. Expand
Clinical and hematologic characteristics in acute leukemia with 11q23 translocations.
TLDR
The findings indicate that leukemia with the 11q23 translocation share certain characteristics in common, irrespective of the recipient chromosome, even though the latter may have some influence on the morphological and immunologic phenotype. Expand
Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.
TLDR
A familial symptom complex speaking strongly for a syndrome entity, for which the term ataxiatelangiectasia was proposed by the authors in a preliminary report, based on eight cases and a necropsy report, which resists precise classification among the known entities of heredocerebellar ataxia. Expand
High-resolution chromosomes as an independent prognostic indicator in adult acute nonlymphocytic leukemia.
Using high-resolution chromosomes of bone-marrow specimens from 105 consecutive adult patients with de novo acute nonlymphocytic leukemia, we found an unusually high degree of complexity in thisExpand
Three recessive loci required for insulin-dependent diabetes in nonobese diabetic mice.
TLDR
The polygenic control of diabetogenesis in NOD mice, in which a recessive gene linked to the major histocompatibility complex is but one of several controlling loci, suggests that similar polygenic interactions underlie this type of diabetes in humans. Expand
Translocation (9;11)(p21;q23) in three cases of acute monoblastic leukemia.
TLDR
A balanced translocation t(9;11)(p21;q23) was found in three cases of acute monoblastic leukemia (AMol or M5 according to the FAB classification) and a new specific association is proposed between this translocation and acute leukemia of the M5 type. Expand
Amplification and rearrangement of Hu-ets-1 in leukemia and lymphoma with involvement of 11q23.
TLDR
It is suggested that Hu-ets-1 is an unusual oncogene that can help explain the common involvement of chromosome band 11q23 in various subtypes of hematopoietic malignancies. Expand
DNA polymorphism in the human Thy-1 gene.
TLDR
A polymorphic MspI site within the human Thy-1 gene is described that distinguishes two alleles, 8 and 9, which are represented in a northern European population at frequencies of 0.7 and 0.3, respectively. Expand
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