Genomic structure and expression analysis of the spastic paraplegia gene, SPG7

Human Genetics

Volumn 105, Issue 1-2, 1999, Pages 139-144

  Settasatian, Chatri ^a   Whitmore, Scott A ^a   Crawford, Joanna ^a   Bilton, Rebecca L ^a   Cleton Jansen, Anne Marie ^b   Sutherland, Grant R ^a   Callen, David F ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; METALLOPROTEINASE; MITOCHONDRIAL ENZYME;

ARTICLE; CHROMOSOME 16Q; CONTROLLED STUDY; COSMID; DNA POLYMORPHISM; EXON; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; INTRON; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALTERNATIVE SPLICING; BASE SEQUENCE; BLOTTING, NORTHERN; CHROMOSOMES, HUMAN, PAIR 16; COSMIDS; EXONS; HUMANS; INTRONS; METALLOENDOPEPTIDASES; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY; TISSUE DISTRIBUTION;

STAPHYLOCOCCUS PHAGE 3A;

EID: 0032764572     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051076     Document Type: Article

References (21)

1. Brenner AJ, Aldaz CM (1997) The genetics of sporadic breast cancer. Prog Clin Biol Res 396:63-82
2. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B, Ballabio A (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-983
3. Cleton-Jansen AM, Moerland EW, Kuipers-Dijkshoorn NJ, Callen DF, Sutherland GR, Hansen B, Devilee P, Cornelisse CJ (1994) At least two different regions are involved in allelic imbalance on chromosome arm 16q in breast cancer. Genes Chromosomes Cancer 9:101-107
4. Durbin H, Novelli MR, Bodmer WF (1997) Genomic and cDNA sequence analysis of the cell matrix adhesion regulator gene. Proc Natl Acad Sci USA 94:14578-14583
5. Fink JK (1997) Advances in hereditary spastic paraplegia. Curr Opin Neurol 10:313-318
6. Fink JK, Wu CTB, Jones SM, Sharp GB, Lange BM, Lesicki A, Reinglass T, Varvil T, Otterud B, Leppert M (1995) Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 56:188-192
7. Ferlini A, Galie N, Merlini L, Sewry C, Branzi A, Muntoni F (1998) A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am J Hum Genet 63:436-446
8. Harding AE (1981) Genetic aspects of autosomal dominant late onset cerebellar ataxia. J Med Genet 18:436-441
9. Hazan J, Lamy C, Melki J, Munnich A, Recondo J de, Weissenbach J (1993) Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 5:163-167
10. Hazan J, Fontaine B, Bruyn RPM, Lamy C, Deutekom JCT van, Rime CS, Durr A, Melki J, Lyon-Caen O, Agid Y, Munnich A, Padberg GW, Recondo J de, Frants RR, Brice A, Weissenbach J (1994) Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 3:1569-1573
11. Hentati A, Pericak-Vance MA, Hung W-Y, Belae S, Laing N, Boustany R-M, Hentati F, Ben Hamida M, Siddique T (1994) Linkage of "pure" autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 3: 1263-1267
12. Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S (1994) X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7:402-407
13. Patel S, Latterich M (1998) The AAA team: related ATPases with diverse functions. Trends Cell Biol 8:65-71
14. Pullman WE, Bodmer WF (1992) Cloning and characterization of a gene that regulates cell adhesion. Nature 356:529-532
15. Reid E (1997) Pure hereditary spastic paraplegia. J Med Genet 34:499-503
16. Rep M, Grivell LA (1996) The role of protein degradation in mitochondrial function and biogenesis. Curr Genet 30:367-380
17. Sangier-Veber P, Munnich A, Bonneau D, Rozet JM, LeMerrer M, Gil R, Boespflug-Tanguy O (1994) X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 6:257-262
18. Shapiro MB, Senapathy P (1987) RNA splice junctions of different class of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174
19. Suzuki H, Komiya A, Emi M, Kuramochi H, Shiraishi T, Yatani R, Shimazaki J (1996) Three distinct commonly deleted regions of chromosome arm 16q in human primary and metastatic prostate cancers. Genes Chromosom Cancer 17:225-233
20. Tsuda H, Callen DF, Fukutomi T, Nakamura Y, Hirohashi S (1994) Allele loss on chromosome 16q24.2-qter occurs frequently in breast cancers irrespectively of differences in phenotype and extent of spread. Cancer Res 54:513-517
21. Whitmore SA, Crawford J, Apostolou S, Eyre H, Baker E, Lower KM, Settasatian C, Goldup S, Seshadri R, Gibson RA, Mathew CG, Cleton-Jansen A-M, Savoia A, Pronk JC, Auerbach AD, Doggett NA, Sutherland GR, Callen DF (1998) Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer. Genomics 50:1-8