Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP
- PMID: 9503025
- DOI: 10.1006/geno.1997.5141
Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP
Abstract
The spinal muscular atrophies (SMA), which are characterized by motor neuron loss and progressive paralysis, are among the most common autosomal recessive disorders. The SMA region of chromosome 5q13.1 is distinguished by variable amplification of genomic sequence incorporating a number of genes and pseudogenes. Recently, two SMA candidate genes mapping to this area were identified: survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP). The telomeric copy of SMN (SMNtel) is deleted in over 95% of cases of SMA, with NAIP deletions primarily seen in type I SMA. We present here 131 kb of genomic sequence from 5q13.1 incorporating both NAIP and SMNtel in addition to revisions of the original NAIP cDNA sequence. The Alu-rich NAIP-SMNtel interval contains the microsatellite polymorphisms that are deleted in as many as 80% of type I SMA chromosomes, focusing attention on this region in the pathogenesis of type I SMA.
Similar articles
-
Identification of two distinct transcripts for the neuronal apoptosis inhibitory protein gene.Biochem Biophys Res Commun. 1999 Nov 2;264(3):998-1006. doi: 10.1006/bbrc.1999.1615. Biochem Biophys Res Commun. 1999. PMID: 10544044
-
Deletions in the SMN and NAIP genes in patients with spinal muscular atrophy in Croatia.Coll Antropol. 1997 Dec;21(2):487-92. Coll Antropol. 1997. PMID: 9439064
-
Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.Saudi Med J. 2003 Oct;24(10):1052-4. Saudi Med J. 2003. PMID: 14578966
-
[Molecular genetic diagnosis and deletion analysis in Type I-III spinal muscular atrophy].Schweiz Med Wochenschr. 1996 May 25;126(21):907-14. Schweiz Med Wochenschr. 1996. PMID: 8693311 Review. German.
-
Spinal muscular atrophy: untangling the knot?J Med Genet. 1999 Jan;36(1):1-8. J Med Genet. 1999. PMID: 9950358 Free PMC article. Review.
Cited by
-
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20. Hum Genet. 2019. PMID: 30788592 Free PMC article.
-
A novel protein isoform of the multicopy human NAIP gene derives from intragenic Alu SINE promoters.PLoS One. 2009 Jun 2;4(6):e5761. doi: 10.1371/journal.pone.0005761. PLoS One. 2009. PMID: 19488400 Free PMC article.
-
PCR-RFLP, sequencing, and quantification in molecular diagnosis of spinal muscular atrophy: limits and advantages.J Mol Neurosci. 2013 Jun;50(2):270-4. doi: 10.1007/s12031-012-9944-9. Epub 2013 Jan 8. J Mol Neurosci. 2013. PMID: 23297012
-
Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy.Neurotherapeutics. 2013 Oct;10(4):677-87. doi: 10.1007/s13311-013-0209-2. Neurotherapeutics. 2013. PMID: 23996601 Free PMC article. Review.
-
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.Am J Hum Genet. 1999 May;64(5):1340-56. doi: 10.1086/302369. Am J Hum Genet. 1999. PMID: 10205265 Free PMC article.
Publication types
MeSH terms
Substances
Associated data
- Actions
- Actions
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases
