HMRE11: Genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay

Human Molecular Genetics

Volumn 10, Issue 11, 2001, Pages 1155-1162

  Pitts, Sharon A ^a   Kullar, Harjit S ^a   Stankovic, Tatjana ^a   Stewart, Grant S ^a   Last, James I K ^a   Bedenham, Tina ^a   Armstrong, Susan J ^a   Piane, Maria ^b   Chessa, Luciana ^b   Taylor, A Malcolm R ^a   Byrd, Philip J ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HMRE 11 PROTEIN; MESSENGER RNA; MRE 11 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; ATAXIA TELANGIECTASIA; CHROMOSOME POLYMORPHISM; CODON; CONTROLLED STUDY; EXON; FATHER; GENE DELETION; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HUMAN; INHERITANCE; ITALY; MISSENSE MUTATION; MOTHER; MUTANT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; RNA TRANSLATION; SURVIVAL;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 14344278568     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.11.1155     Document Type: Article

References (24)

1. Stewart, G.S., Maser, R.S., Stankovic, T., Bressan, D.A., Kaplan, M.I., Jaspers, N.G.J., Raams, A., Byrd, P.J., Petrini, J.H.J. and Taylor, A.M.R. (1999) The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia telangiectasia-like disorder. Cell, 99, 577-587.
2. Hernandez, D., McConville, C.M., Stacey, M., Woods, C.G., Brown, M.M., Shutt, P., Rysiecki, G. and Taylor, A.M.R. (1993) A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. J. Med. Genet., 30, 135-140.
3. Klein, C., Wenning, G.K., Quinn, N.P. and Marsden, C.D. (1996) Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov. Disord., 11, 217-220.
4. Gatei, M., Young, D., Cerosaletti, K.M., Desai-Mehta, A., Spring, K., Kozlov, S., Lavin, M., Gatti, R.A., Concannon, P. and Khanna, K. (2000) ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nat. Genet., 25, 115-119.
5. Lim, D.-S., Kim, S.-T., Xu, B., Maser, R., Lin, J., Petrini, J.H.J. and Kastan, M.B. (2000) ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature, 404, 613-617.
6. Wu, X., Ranganathan, V., Weisman, D.S., Heine, W.F., Ciccone, D.N., O'Neill, T.B., Crick, K.E., Pierce, K.A., Lane, W.S., Rathbun, G. et al. (2000) ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature, 405, 477-482.
7. Zhao, S., Weng, Y.C., Yuan, S.S., Lin, Y.T., Hsu, H.C., Lin, S.C., Gerbino, E., Song, M.H., Zdzienicka, M.Z., Gatti, R.A. et al. (2000) Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Nature, 405, 473-477.
8. Dong, Z., Zhong, Q. and Chen, P.-L. (1999) The Nijmegen breakage syndrome protein is essential for MRE11 phosphorylation upon DNA damage. J. Biol. Chem., 274, 19513-19516.
9. Maser, R.S., Monsen, K.J., Nelms, B.E. and Petrini, J.H.J. (1997) hMRE11 and hRAD50 nuclear foci are induced during the normal cellular response to DNA double-stranded breaks. Mol. Cell. Biol., 17, 6087-6096.
10. Nelms, B.E., Maser, R.S., Mackay, J.F., Lagally, M.G. and Petrini, J.H.J. (1998) In situ visualization of DNA double-strand break repair in human fibroblasts. Science, 280, 590-592.
11. Petrini, J.H.J. (2000) The Mre11 complex and ATM: collaborating to navigate S phase. Curr. Opin. Cell Biol., 12, 293-296.
12. Haber, J.E. (1998) The many interfaces of MRE11. Cell, 95, 583-586.
13. Riley, J., Butler, R., Ogilvie, D., Finniear, R., Jenner, D., Powell, S., Anand, R., Smith, J.C. and Markham, A.F. (1990) A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. Nucleic Acids Res., 18, 2887-2890.
14. Petrini, J.H.J., Walsh, M.E., DiMare, C., Chen, X.-N., Korenberg, J.R. and Weaver, D.T. (1995) Isolation and characterisation of the human MRE11 homologue. Genomics, 29, 80-86.
15. Chamankhah, M., Wei, Y.-F. and Xiao, W. (1998) Isolation of hMRE11B: failure to complement yeast mre11 defects due to species-species protein interactions. Gene, 225, 107-116.
16. Yang, Y., Vassilopoulos, G., Zitnik, G., Papayannopoulou, T. and Stamatoyannopoulos, G. (1996) Search for γ-globin gene-specific transactivators using the model of switching human fetal liver erythroid x MEL cell hybrids. Blood, 88, 463a.
17. Bateman, J.F., Freddi, S., Lamande, S.R., Byers, P., Nasioulas, S., Douglas, J., Otway, R., Kohonen-Corish, M., Edkins, E. and Forrest, S. (1999) Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability. Hum. Mutat., 13, 311-317.
18. Xiao, Y. and Weaver, D.T. (1997) Conditional gene targeted deletion by Cre recombinase demonstrates the requirement for the double-strand break repair MRE11 protein in murine embryonic stem cells. Nucleic Acids Res., 25, 2985-2991.
19. Fukuda, T., Sumiyoshi, T., Takahashi, M., Kataoka, T., Asahara, T., Inui, H., Watatani, M., Yasutomi, M., Kamada, N. and Miyagawa, K. (2001) Alterations of the double-strand break repair gene MRE11 in cancer. Cancer Res., 61, 23-26.
20. Byrd, P.J., McConville, C.M., Cooper, P., Parkhill, J., Stankovic, T., McGuire, G.M., Thick, J.A. and Taylor, A.M.R. (1996) Mutations revealed by sequencing the 5′ half of the gene for ataxia telangiectasia. Hum. Mol. Genet., 5, 145-149.
21. Imai, T., Yamauchi, M., Seki, N., Sugawara, T., Saito, T., Matsuda, Y., Ito, H., Nagase, T., Nomura, N. and Hori, T. (1996) Identification and characterization of a new gene physically linked to the ATM gene. Genome Res., 6, 439-447.
22. Connelly, M.A., Zhang, H., Kieleczawa, J. and Anderson, C.W. (1998) The promoters for human DNA-PKcs (PRKDC) and MCM4: divergently transcribed genes located at chromosome 8 band q11. Genomics, 47, 71-83.
23. Xu, C.F., Chambers, J.A. and Solomon, E. (1997) Complex regulation of the BRCA1 gene. J. Biol. Chem., 272, 20994-20997.
24. Byrd, P.J., Cooper, P.R., Stankovic, T., Kullar, H.S., Watts, G.D.J., Robinson, P.J. and Taylor, A.M.R. (1996) A gene transcribed from the bidirectional ATM promoter coding for a serine-rich protein: amino acid sequence, structure and expression studies. Hum. Mol. Genet., 5, 1785-1791.