Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13 - PubMed (original) (raw)
Comparative Study
. 1995 May 20;27(2):366-9.
doi: 10.1006/geno.1995.1059.
Affiliations
- PMID: 7558009
- DOI: 10.1006/geno.1995.1059
Comparative Study
Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13
M J Francis et al. Genomics. 1995.
Abstract
The mutation that underlies the autosomal recessive disorder spinal muscular atrophy (SMA) is located on chromosome 5q13. Recent studies show that SMA patients frequently have deletions and rearrangements in this region compared to normal controls. During the isolation of candidate cDNAs for the disease, we identified a sequence that shows high homology to the THE-1 retrotransposon gene family. Using YAC fragmentation techniques, we have refined the localization of this sequence to the domain known to show instability in SMA patients. The implication of these results for the mechanism of the mutation in SMA is discussed.
Similar articles
- Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.
Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE. Chen Q, et al. Genomics. 1998 Feb 15;48(1):121-7. doi: 10.1006/geno.1997.5141. Genomics. 1998. PMID: 9503025 - Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.
Scharf JM, Endrizzi MG, Wetter A, Huang S, Thompson TG, Zerres K, Dietrich WF, Wirth B, Kunkel LM. Scharf JM, et al. Nat Genet. 1998 Sep;20(1):83-6. doi: 10.1038/1753. Nat Genet. 1998. PMID: 9731538 - The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.
Scharf JM, Damron D, Frisella A, Bruno S, Beggs AH, Kunkel LM, Dietrich WF. Scharf JM, et al. Genomics. 1996 Dec 15;38(3):405-17. doi: 10.1006/geno.1996.0644. Genomics. 1996. PMID: 8975718 - [Molecular genetic diagnosis and deletion analysis in Type I-III spinal muscular atrophy].
Spiegel R, Hagmann A, Boltshauser E, Moser H. Spiegel R, et al. Schweiz Med Wochenschr. 1996 May 25;126(21):907-14. Schweiz Med Wochenschr. 1996. PMID: 8693311 Review. German. - An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
Wirth B. Wirth B. Hum Mutat. 2000;15(3):228-37. doi: 10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10679938 Review.
Cited by
- Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.
Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. Campbell L, et al. Am J Hum Genet. 1997 Jul;61(1):40-50. doi: 10.1086/513886. Am J Hum Genet. 1997. PMID: 9245983 Free PMC article. - Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?
Vorster E, Essop FB, Rodda JL, Krause A. Vorster E, et al. Front Genet. 2020 Feb 13;11:54. doi: 10.3389/fgene.2020.00054. eCollection 2020. Front Genet. 2020. PMID: 32117462 Free PMC article. - Evolution and biological significance of human retroelements.
Leib-Mösch C, Seifarth W. Leib-Mösch C, et al. Virus Genes. 1995;11(2-3):133-45. doi: 10.1007/BF01728654. Virus Genes. 1995. PMID: 8828141 Review. - Spinal muscular atrophy: untangling the knot?
Biros I, Forrest S. Biros I, et al. J Med Genet. 1999 Jan;36(1):1-8. J Med Genet. 1999. PMID: 9950358 Free PMC article. Review. - Spinal muscular atrophy: present state.
Schmalbruch H, Haase G. Schmalbruch H, et al. Brain Pathol. 2001 Apr;11(2):231-47. doi: 10.1111/j.1750-3639.2001.tb00395.x. Brain Pathol. 2001. PMID: 11303798 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical