Human Molecular Genetics, Vol 5, 145-149, Copyright © 1996 by Oxford University Press
PJ Byrd, CM McConville, P Cooper, J Parkhill, T Stankovic, GM McGuire, JA Thick and AM Taylor
Ataxia telangiectasia is a recessive disorder in which patients show a
progressive cerebellar degeneration leading to ataxia, abnormal eye
movements and deterioration of speech. Other features include ocular
telangiectasia, high serum AFP levels, immunodeficiency, growth retardation
and an increased predisposition to some tumours, particularly T cell
leukaemia and lymphoma. We report the 1348 amino acid sequence of the
N-terminal half of the A-T gene product which, together with the previously
published C-terminal half, completes the sequence of the A-T protein. No
homologies with other genes have been found within the N-terminal half of
the A-T protein. We have also identified six mutations affecting the
N-terminal half of the protein. One of these mutations was found to be
associated with a haplotype that is common to four apparently unrelated
families of Irish descent. All the patients so far examined for both A-T
alleles were shown to be compound heterozygotes. None of these mutations
affected a putative promoter region which may direct divergent
transcription of both the A- T gene and a novel gene E14. The ability to
recognise mutations across the entire coding sequence of the A-T gene
provides a practical advantage to A-T families since a DNA based prenatal
diagnosis will be possible in families where the mutations are identified
irrespective of the level of radiosensitivity in these families.
ARTICLES
Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia
Institute for Cancer Studies, University of Birmingham, Edgbaston, UK.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. SPYRIDONIDOU, C. YAPIJAKIS, E. NKENKE, T. TOYOSHIMA, A. VYLLIOTIS, Z. SEREFOGLOU, F. W. NEUKAM, E. PATSOURIS, and E. VAIRAKTARIS A Common 9 bp Deletion in the Ataxia-telangiectasia-mutated Gene Is Not Associated with Oral Cancer Anticancer Res, August 1, 2009; 29(8): 3191 - 3193. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. A. Pitts, H. S. Kullar, T. Stankovic, G. S. Stewart, J. I. K. Last, T. Bedenham, S. J. Armstrong, M. Piane, L. Chessa, A. M. R. Taylor, et al. hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay Hum. Mol. Genet., May 1, 2001; 10(11): 1155 - 1162. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Stankovic, A. M. R. Taylor, M. R. Yuille, and I. Vorechovsky Recurrent ATM mutations in T-PLL on diverse haplotypes: no support for their germline origin Blood, March 1, 2001; 97(5): 1517 - 1518. [Full Text] [PDF]
|
|
|
|
 |
|
 K. Suzuki, S. Kodama, and M. Watanabe Recruitment of ATM Protein to Double Strand DNA Irradiated with Ionizing Radiation J. Biol. Chem., September 3, 1999; 274(36): 25571 - 25575. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. E. Nichols, S. Levitz, K. E. Shannon, D. C.R. Wahrer, D. W. Bell, G. Chang, S. Hegde, D. Neuberg, T. Shafman, N. J. Tarbell, et al. Heterozygous Germline ATM Mutations Do Not Contribute to Radiation-Associated Malignancies After Hodgkin's Disease J. Clin. Oncol., April 1, 1999; 17(4): 1259 - 1259. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. Zhang, P. Chen, K. K. Khanna, S. Scott, M. Gatei, S. Kozlov, D. Watters, K. Spring, T. Yen, and M. F. Lavin Isolation of full-length ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype PNAS, July 22, 1997; 94(15): 8021 - 8026. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Platzer, G. Rotman, D. Bauer, T. Uziel, K. Savitsky, A. Bar-Shira, S. Gilad, Y. Shiloh, and A. Rosenthal Ataxia-Telangiectasia Locus: Sequence Analysis of 184 kb of Human Genomic DNA Containing the Entire ATM Gene Genome Res., June 1, 1997; 7(6): 592 - 605. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. D. Brown, Y. Ziv, S. N. Sadanandan, L. Chessa, F. S. Collins, Y. Shiloh, and D. A. Tagle The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage PNAS, March 4, 1997; 94(5): 1840 - 1845. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P J Byrd, T Stankovic, C M McConville, A D Smith, P R Cooper, and A M Taylor Identification and analysis of expression of human VACM-1, a cullin gene family member located on chromosome 11q22-23. Genome Res., January 1, 1997; 7(1): 71 - 75. [Abstract] [PDF]
|
|
|
|
|
|
G. Chen and E. Y.-H. P. Lee The Product of the ATM Gene Is a 370-kDa Nuclear Phosphoprotein J. Biol. Chem., December 27, 1996; 271(52): 33693 - 33697. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Elson, Y. Wang, C. J. Daugherty, C. C. Morton, F. Zhou, J. Campos-Torres, and P. Leder Pleiotropic defects in ataxia-telangiectasia protein-deficient mice PNAS, November 12, 1996; 93(23): 13084 - 13089. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Gueven, K. E. Keating, P. Chen, T. Fukao, K. K. Khanna, D. Watters, P. H. Rodemann, and M. F. Lavin Epidermal Growth Factor Sensitizes Cells to Ionizing Radiation by Down-regulating Protein Mutated in Ataxia-Telangiectasia J. Biol. Chem., March 16, 2001; 276(12): 8884 - 8891. [Abstract] [Full Text] [PDF]
|
|