Human and mouse RAD17 genes: Identification, localization, genomic structure and histological expression pattern in normal testis and seminoma

Human Genetics

Volumn 105, Issue 1-2, 1999, Pages 17-27

  Von Deimling, F ^a   Scharf, J M ^b   Liehr, T ^c   Rothe, M ^d   Kelter, A R ^a   Albers, P ^e   Dietrich, W F ^f   Kunkel, L M ^b   Wernert, N ^d   Wirth, B ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c Institute of Human Genetics and Anthropology   (Germany)

^d UNIVERSITY OF BONN   (Germany)

^e Department of Urology ^*  (Germany)

^f HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL CYCLE PROTEIN; MESSENGER RNA;

ANIMAL TISSUE; ARTICLE; CHROMOSOME 13Q; CHROMOSOME 5Q; CHROMOSOME 7P; EXON; GENE EXPRESSION; GENE ISOLATION; GENE MAPPING; GENE STRUCTURE; HISTOLOGY; HUMAN; HUMAN TISSUE; IN SITU HYBRIDIZATION; INTRON; MALE; MOUSE; NONHUMAN; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOGENE; RNA PROBE; SEMINIFEROUS TUBULE EPITHELIUM; SEMINOMA; SEQUENCE HOMOLOGY; STOP CODON; TESTIS; TRANSLATION INITIATION;

EID: 0032842429     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900067     Document Type: Article

References (52)

1. Al-Jehani RMA, Povey S, Delhanty JDA, Parrington JM (1995) Loss of heterozygosity on chromosome arms 5q, 11p, 11q, 13q and 16p in human testicular germ cell tumors. Genes Chromosomes Cancer 13:249-256
2. Bluyssen HAR, Naus NC, Os RI van, Jaspers I, Howeijmakers JHJ, Klein A de (1999) Human and mouse homologues of the Schizosaccharomyces pombe rad17+ cell cycle checkpoint control gene. Genomics 55:219-228
3. Bürglen L, Seroz T, Minou P, Lefebvre S, Burlet P, Munnich A, Pequignot EV, Egly JM, Melki J (1997) The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Am J Hum Genet 60:72-79
4. Carpten JD, DiDonato CJ, Ingraham SE, Wagner-McPherson C, Nieuwnhuijsen BW, Wasmuth JJ, Burghes AHM (1994) A YAC contig of the region containing the spinal muscular atrophy gene: identification of an unstable region. Genomics 24: 351-356
5. Carter TA, Bönnemann CG, Wang CH, Obici S, Parano E, De Fatima, Bonaldo M, Ross BM, Penchaszadeh GK, Mackenzie A, Soares MB, Kunkel LM, Gilliam TC (1997) A multicopy transcription gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum Mol Genet 6:229-236
6. Dean FB, Lian L, O'Donnell M (1998) cDNA cloning and gene mapping of human homologs for Schizosacchararomyces pombe rad17, rad1, and hus 1 and cloning of homologs from mouse, Caenorabditis elegans, and Drosophila melanogaster. Genomics 54:424-436
7. Elledge SJ (1996) Cell cycle checkpoints: preventing an identity crisis. Science 274:1664-1672
8. Francis MJ, Morrison KM, Campbell L, Grewal PK, Christodoulou Z, Daniels RJ, Monaco A P, Frischauf AM, McPherson J, Wasmuth J, Davies KE (1993) A contig of non-chimeric YACs containing the spinal muscular atrophy gene in 5q13. Hum Mol Genet 2:1161-1167
9. Freire R, Murguia JR, Tarsounas M, Lowndes NF, Moens PB, Jackson P (1998) Human and mouse homologs of Schizosaccharomyces pombe rad1+ and Saccharomyces cerevisiae RAD17: linkage to a checkpoint control and mammalian meiosis. Genes and Dev 12:2560-2573
10. Griffiths DJF, Barbet NC, McCready S, Lehmann AR, Carr AM (1995) Fission yeast rad17: a homologue of budding yeast RAD24 that shares regions of sequence similarity with DNA polymerase accessory proteins. EMBO J 14:5812-5823
11. Hartwell LH, Kastan MB (1994) Cell cycle control and cancer. Science 266:1821-1828
12. Hartwell LH, Weinert TA (1989) Checkpoints: controls that ensure the order of cell cycle events. Science 246:629-634
13. Heng HHQ, Tsui LC (1993) Modes of DAPI banding and simultaneous in situ hybridization. Chromosoma 102:325-332
14. Kleyn PW, Wang CH, Lien LL, Vitale E, Pan J, Ross BM, Grunn A, Palme DA, Warburton D, Brzustowicz LM, Kunkel LM, Gilliam TC (1993) Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region. Proc Natl Acad Sci USA 90:6801-6805
15. Korinthenberg R, Sauer M, Ketelsen UP, Haneman CO, Stoll G, Graf M, Baborie A, Volk B, Wirth B, Rudnik-Schoneborn S, Zerres K (1997) Congenital axonal neurophathy caused by deletions in the SMA region. Ann Neurol 42:364-368
16. Kozak M (1991) Structure features in eukaryotic mRNAs that modulate the initiation of translation. J Biol Chem 266:19867-19870
17. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frezal J, Cohen D, Weissenbach J, Munnich A, Melki J (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165
18. Lehmann AR (1996) Molecular biology of DNA repair in the fission yeast Schizosaccharomyces pombe. Mutat Res 363:147-161
19. Liehr T, Thoma K, Kammler K, Gehring C, Ekici A, Bathke KD, Grehl H, et al (1995) Direct preparation of uncultured EDTA-treated or heparinized blood for interphase FISH analysis. Appl Cytogenet 21:185-188
20. Longhese MP, Paciotti V, Fraschini R, Zaccarini R, Plevani P, Lucchini G (1997) A novel DNA damage checkpoint protein Ddc1p is phosphorylated periodically during the cell cycle and in response to DNA damage in budding yeast. EMBO J 16: 5216-5226
21. Lydall D, Weinert T (1995) Yeast checkpoint genes in DNA damage processing: implications for repair and arrest. Science 270: 1488-1491
22. Lydall D, Nikolsky Y, Bishop DK, Weinert T (1996) A meiotic recombination checkpoint controlled by mitotic checkpoint genes. Nature 383:840-843
23. Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, Kassel J (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250: 1233-1238
24. Murty VVVS, Reuter VE, Bosl GJ, Chaganti RSK (1996) Deletion mapping identifies loss of heterozygosity at 5p15.1-15.2, 5q11 and 5q34-35 in human male germ cell tumors. Oncogene 12: 2719-2723
25. Omran H, Ketelsen UP, Heinen F, Sauer M, Rudnik-Schöneborn S, Wirth B, Zerres K, Kratzer W, Korinthenberg R (1998) Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy. J Child Neurol 13:327-331
26. + checkpoint gene. J Biol Chem 273: 18340-18346
27. + checkpoint gene encodes an exonuclease. J Biol Chem 273:18332-18339
28. Paulovich AG, Margulies RU, Garvik BM, Hartwell, LH (1997) RAD9, RAD17 and RAD24 are required for S phase regulation in Saccharomyces cerevisiae in response to DNA damage. Genetics 145:45-62
29. Peltomaki P, Halme A, De La Chapelle A (1990) Human testicular cancer. Changes in autosomal dosage. Cancer Genet Cytogenet 48:1-12
30. cdc2. Cell 58:833-846
31. Pugh R (1976) Teratoma. In: Pugh R (ed) Pathology of the testis. Blackwell Scientific, Oxford, pp 199-244
32. Rodriguez E, Mathew S, Mukherjee AB, Reuter VE, Bosl GJ, Chaganti RSK (1992) Analysis of chromosome 12 aneuploidy in interphase cells from human male germ cell tumors by fluorescence in situ hybridisation. Genes Chromosomes Cancer 5:21-29
33. Scharf JM, Damron D, Frisella A, Bruno S, Beggs AH, Kunkel LM, Dietrich WF (1996) The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5. Genomics 38: 405-417
34. Scharf JM, Endrizzi MG, Wetter A, Huang S, Thompson TG, Dietrich WF, Wirth B, Kunkel LM (1998) Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet 20:83-86
35. Scrivastava S, Zou ZQ, Pirollo K, Blattner W, Chang EH (1990) Germ-line transmission of a mutated p53 gene in a cancerprone family with Li-Fraumeni syndrome. Nature 348:747-749
36. Scully R, Chen J, Ochs RL, Keegan K, Hoekstra M, Feunteun J, Livingston DM (1997) Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell 90:425-435
37. Sharan SK, Morimatsu M, Albrechl U, Lim DS, Regel E, Dinh C, Sands A, Eichele G, Hasty P, Bradley A (1997) Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Nature 386:804-810
38. Sheehan C, Weiss AS (1990) Yeast artificial chromosomes: rapid extraction for high resolution analysis. Nucleic Acids Res 25: 2193
39. Steege G van der, Draaijers TG, Grootscholten PM, Osinga J, Anzevino R, Velona I, Dunnen JT den, Scheffer H, Brahe C, Ommen GJ van, Buys CHCM (1995) A provisional transcript map of the spinal muscular atrophy (SMA) critical region. Eur J Hum Genet 3:87-95
40. Swift M, Morrell D, Massey RB, Chase CL (1991) Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 325:1831-1836
41. Thelen MP, Onel K Holloman WK (1994) The REC1 gene of Ustilago maydis involved in the cellular response to DNA damage encodes an exonuclease. J Biol Chem 269:747-754
42. Torre-Ruiz M-A de la, Green CM, Lowndes NF (1998) RAD9 and RAD24 define two additive, interacting branches of the DNA damage checkpoint pathway in budding yeast normally required for Rad53 modification and activation. EMBO J 17: 2687-2698
43. Vanin EF (1985) Processed pseudogenes: characteristics and evolution. Annu Rev Genet 19:253-272
44. Varesco L, Thomas HJW, Cottrell S, Murday V, Fennell SJ, Williams S, Searle S, Sheer D, Bodmer WF, Frischauf AM, Solomon E (1989) CpG island clones from a deletion encompassing the gene for adenomatous polyposis coli. Proc Natl Acad Sci USA 86:10118-10122
45. Weiner AM, Deininger PL, Efstratiadis A (1986) Nonviral retroposons: genes, pseudogenes and transposable elements gener 55:631-661
46. Weinert TA (1992) Dual cell cycle checkpoints sensitive to chromosome replication and DNA damage in the budding yeast Saccharomyces cerevisiae. Radiat Res 132:141-143
47. Weinert TA, Hartwell LH (1988) The RAD9 gene controls the cell cycle response to DNA damage in Saccharomyces cerevisiae. Science 241:317-322
48. Weinert TA, Hartwell LH (1993) Cell cycle arrest of cdc mutants and specificity of the RAD9 checkpoint. Genetics 134:63-80
49. Wernert N, Raes MB, Lassalle P, Dehouck MP, Gosselin B, Vandenbunder B, Stehelin D (1992) c-etsl proto-oncogene is a transcription factor expressed in endothelial cells during tumor vascularization and other forms of angiogenesis in humans. Am J Pathol 140:119-127
50. Wirth B, El-Agwany A, Baasner A, Burghes A, Koch A, Dadze A, Piechaczek-Wappenschmidt B, Rudnik-Schoneborn S, Zerres K, Schonling J (1995) Mapping of the spinal muscular atrophy (SMA) gene to a 750 kb interval flanked by two new microsatellites. Eur J Hum Genet 3:56-60
51. Wlodarska I, De Wolf-Peeters C, Dierick H, Hilliker C, Thomas J, Mecucci C, Cassiman JJ, Berghe H van den (1994) Detection of amplified sequences at 5q11-q13 in a homogeneously staining region found by fluorescent in situ hybridization in a case of B cell non-Hodgkin's lymphoma. Cytogenet Cell Genet 65:179-183
52. Zerres K, Rudnik-Schöneborn S, Hahnen E, Ketelsen U-P, Korinthenberg R, Wirth B (1997) CNS and peripheral nerve involvement - hitherto unknown manifestations of severe congenital spinal muscular atrophy (SMA). Med Genet 9:42