메뉴 건너뛰기




Volumn 20, Issue 1, 1998, Pages 83-86

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL SURVIVAL; CHROMOSOME 5Q; CONTROLLED STUDY; GENE DELETION; HUMAN; MOTONEURON; MOUSE; NERVE CELL NECROSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

EID: 0031710558     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/1753     Document Type: Article
Times cited : (110)

References (30)
  • 1
    • 0027057672 scopus 로고
    • International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)
    • Munsat, T.L. & Davies, K.E. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromusc. Disord. 2, 423-428 (1992).
    • (1992) Neuromusc. Disord. , vol.2 , pp. 423-428
    • Munsat, T.L.1    Davies, K.E.2
  • 2
    • 0025260440 scopus 로고
    • Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
    • Brzustowicz, L.M. et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344, 540-541 (1990).
    • (1990) Nature , vol.344 , pp. 540-541
    • Brzustowicz, L.M.1
  • 3
    • 0025299356 scopus 로고
    • Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14
    • Melki, J. et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. Lancet 336, 271-273 (1990).
    • (1990) Lancet , vol.336 , pp. 271-273
    • Melki, J.1
  • 4
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-165 (1995).
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1
  • 5
    • 0028905919 scopus 로고
    • Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
    • Rodrigues, N.R. et al. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. Mol. Genet. 4, 631-634 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 631-634
    • Rodrigues, N.R.1
  • 6
    • 0029858451 scopus 로고    scopus 로고
    • Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into molecular mechanisms responsible for the disease
    • Hahnen, E., Schonling, J., Rudnik-Schoneborn, S., Zerres, K. & Wirth, B. Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am. J. Hum. Genet. 59, 1057-1065 (1996).
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 1057-1065
    • Hahnen, E.1    Schonling, J.2    Rudnik-Schoneborn, S.3    Zerres, K.4    Wirth, B.5
  • 7
    • 0029819241 scopus 로고    scopus 로고
    • Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
    • van der Steege, G. et al. Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am. J. Hum. Genet. 59, 834-838 (1996).
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 834-838
    • Van Der Steege, G.1
  • 8
    • 0030981541 scopus 로고    scopus 로고
    • Correlation between severity and SMN protein level in spinal muscular atrophy
    • Lefebvre, S. et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nature Genet. 16, 265-269 (1997).
    • (1997) Nature Genet. , vol.16 , pp. 265-269
    • Lefebvre, S.1
  • 9
    • 8544283791 scopus 로고    scopus 로고
    • The survival motor neuron protein in spinal muscular atrophy
    • Coovert, D.D. et al. The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet. 6, 1205-1214 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1205-1214
    • Coovert, D.D.1
  • 10
    • 0031800695 scopus 로고    scopus 로고
    • SMN oligomerization defect correlates with spinal muscular atrophy severity
    • Lorson, C.L. et al. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nature Genet. 19, 63-66 (1998).
    • (1998) Nature Genet. , vol.19 , pp. 63-66
    • Lorson, C.L.1
  • 11
    • 0030589633 scopus 로고    scopus 로고
    • The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5
    • Scharf, J.M. et al. 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 (1996).
    • (1996) Genomics , vol.38 , pp. 405-417
    • Scharf, J.M.1
  • 13
    • 0032478732 scopus 로고    scopus 로고
    • Matrin CYP, an SR-rich cyclophilin that associates with the nuclear matrix and splicing factors
    • Mortillaro, M.J. & Berezney, R. Matrin CYP, an SR-rich cyclophilin that associates with the nuclear matrix and splicing factors. J. Biol. Chem. 273, 8183-8192 (1998).
    • (1998) J. Biol. Chem. , vol.273 , pp. 8183-8192
    • Mortillaro, M.J.1    Berezney, R.2
  • 14
    • 0030931727 scopus 로고    scopus 로고
    • The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
    • Liu, Q., Fischer, U., Wang, F. & Dreyfuss, G. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 90, 1013-1021 (1997).
    • (1997) Cell , vol.90 , pp. 1013-1021
    • Liu, Q.1    Fischer, U.2    Wang, F.3    Dreyfuss, G.4
  • 15
    • 0030928716 scopus 로고    scopus 로고
    • The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
    • Fischer, U., Liu, Q. & Dreyfuss, G. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 90, 1023-1029 (1997).
    • (1997) Cell , vol.90 , pp. 1023-1029
    • Fischer, U.1    Liu, Q.2    Dreyfuss, G.3
  • 16
    • 0028171819 scopus 로고
    • Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy
    • DiDonato, C.J. et al. Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am. J. Hum. Genet. 55, 1218-1229 (1994).
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 1218-1229
    • DiDonato, C.J.1
  • 17
    • 0029117950 scopus 로고
    • Allelic association and deletions in autosomal recessive spinal muscular atrophy: Association of marker genotype with disease severity and candidate cDNAs
    • Wirth, B. et al. Allelic association and deletions in autosomal recessive spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum. Mol. Genet. 4, 1273-1284 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1273-1284
    • Wirth, B.1
  • 18
    • 0029880997 scopus 로고    scopus 로고
    • Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
    • Burlet, P. et al. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J. Med. Genet. 33, 281-283 (1996).
    • (1996) J. Med. Genet. , vol.33 , pp. 281-283
    • Burlet, P.1
  • 19
    • 0030047445 scopus 로고    scopus 로고
    • Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of (C)BCD541 and SMA phenotype
    • Velasco, E., Valero, C., Valero, A., Moreno, F. & Hernandez-Chico, C. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of (C)BCD541 and SMA phenotype. Hum. Mol. Genet. 5, 257-263 (1996).
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 257-263
    • Velasco, E.1    Valero, C.2    Valero, A.3    Moreno, F.4    Hernandez-Chico, C.5
  • 21
    • 0031004339 scopus 로고    scopus 로고
    • Decreased expression of full-length mRNA for cBCD41 does not correlate with spinal muscular atrophy phenotype severity
    • Nishio, H. et al. Decreased expression of full-length mRNA for cBCD41 does not correlate with spinal muscular atrophy phenotype severity. Neurology 48, 1266-1270 (1997).
    • (1997) Neurology , vol.48 , pp. 1266-1270
    • Nishio, H.1
  • 22
    • 0031030666 scopus 로고    scopus 로고
    • Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy
    • Schwartz, M. et al. Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy. Hum. Mol. Genet. 6, 99-104 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 99-104
    • Schwartz, M.1
  • 23
    • 0028896092 scopus 로고
    • The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
    • Roy, N. et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80, 167-178 (1995).
    • (1995) Cell , vol.80 , pp. 167-178
    • Roy, N.1
  • 24
    • 0031026977 scopus 로고    scopus 로고
    • The gene encoding p44, a subunit of the transcription factor TFIIH. is involved in large-scale deletions associated with Werdnig-Hoffmann disease
    • Burglen, L. et al. 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 (1997).
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 72-79
    • Burglen, L.1
  • 25
    • 8044226616 scopus 로고    scopus 로고
    • A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions
    • Carter, T.A. et al. A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum. Mol. Genet. 6, 229-236 (1997).
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 229-236
    • Carter, T.A.1
  • 26
    • 0031937537 scopus 로고    scopus 로고
    • Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes 5MN and NAIP
    • Chen, Q. et al. Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes 5MN and NAIP. Genomics 48, 121-127 (1998).
    • (1998) Genomics , vol.48 , pp. 121-127
    • Chen, Q.1
  • 27
    • 0028200804 scopus 로고
    • De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
    • Melki, J. et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264, 1474-1477 (1994).
    • (1994) Science , vol.264 , pp. 1474-1477
    • Melki, J.1
  • 28
    • 0030881249 scopus 로고    scopus 로고
    • Genotator: A workbench for sequence annotation
    • Harris, N.L. Genotator: a workbench for sequence annotation. Genome Res. 7, 754-762 (1997).
    • (1997) Genome Res. , vol.7 , pp. 754-762
    • Harris, N.L.1
  • 29
    • 0029003447 scopus 로고
    • Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene
    • Selig, S. et al. Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc. Natl Acad. Sci. USA 92, 3702-3706 (1995).
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 3702-3706
    • Selig, S.1
  • 30
    • 0030801002 scopus 로고    scopus 로고
    • Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
    • Altschul, S.F. et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 25, 3389-3402 (1997).
    • (1997) Nucleic Acids Res. , vol.25 , pp. 3389-3402
    • Altschul, S.F.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.