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Article

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

Human molecular genetics - 1 Jul 1999

Monani U R, Lorson C L, Parsons D W, Prior T W, Androphy E J, Burghes A H, McPherson J D

Abstract excerpt

Spinal muscular atrophy (SMA) is a recessive disorder characterized by loss of motor neurons in the spinal cord. It is caused by mutations in the telomeric survival motor neuron 1 ( SMN1 ) gene. Alterations within an almost identical copy gene, the centromeric survival motor neuron 2 ( SMN2 ) gene produce no known phenotypic effect. The exons of the two genes differ by just two nucleotides, neither of which...

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Source

Identifiers

PMID: 10369862
DOI: 10.1093/hmg/8.7.1177

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.PMID 10369862Read ↗

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Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.Semantic proximity Read ↗

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.Semantic proximity Read ↗

Splicing of the Survival Motor Neuron genes and implications for treatment of SMASemantic proximity Read ↗

Identification and characterization of a spinal muscular atrophy-determining gene.Semantic proximity Read ↗

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.Semantic proximity Read ↗

Best practice guidelines for molecular analysis in spinal muscular atrophy.Semantic proximity Read ↗

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.Semantic proximity Read ↗

Solving the puzzle of spinal muscular atrophy: What are the missing pieces?Semantic proximity Read ↗

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