ArticleAmerican journal of human genetics1996
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed, 93 citations in OpenAlex.
- Development of Clinical Pathways for Early Diagnosis and Management of SCID, SMA, and XLA Through Newborn Screening in Malaysia.International journal of neonatal screening · 2026Review
- Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.NPJ genomic medicine · 2026Article
- Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.International journal of neonatal screening · 2023Article
- Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.International journal of molecular sciences · 2023Review
- Spinal muscular atrophy.Nature reviews. Disease primers · 2022Review
- Genomic Variability in the Survival Motor Neuron Genes (International journal of molecular sciences · 2021Review
- Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.Neurogenetics · 2021Article
- Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.Molecular genetics & genomic medicine · 2020Article
- Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?Frontiers in genetics · 2020Article
- The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.PloS one · 2019Article
- Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates.Current genomics · 2018Review
- A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.European journal of human genetics : EJHG · 2016Article
- Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.Frontiers in molecular biosciences · 2016Review
- A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.Journal of human genetics · 2015Article
- Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.Annals of neurology · 2014Article
- Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds.EMBO molecular medicine · 2013Article
- Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.Annals of Indian Academy of Neurology · 2013Article
- Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.Human genetics · 2006Article
- 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.American journal of human genetics · 1999Article
- Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.American journal of human genetics · 1998Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
The survival motor neuron (SMN) gene has been described as a determining gene for spinal muscular atrophy (SMA). SMN has a closely flanking, nearly identical copy (cBCD541). Gene and copy gene can be discriminated by sequence differences in exons 7 and 8. The large majority of SMA patients show homozygous deletions of at least exons 7 and 8 of the SMN gene. A minority of patients show absence of SMN exon 7 but retention of exon 8. This is explained by results of our present analysis of 13 such patients providing evidence for apparent gene-conversion events between SMN and the centromeric copy gene. Instead of applying a separate analysis for absence or presence of SMN exons 7 and 8, we used a contiguous PCR from intron 6 to exon 8. In every case we found a chimeric gene with a fusion of exon 7 of the copy gene and exon 8 of SMN and absence of a normal SMN gene. Similar events, including the fusion counterpart, were observed in a group of controls, although in the presence of a normal SMN gene. Chimeric genes as the result of fusions of parts of SMN and cBCD541 apparently are far from rare and may partly explain the frequently observed SMN deletions in SMA patients.
Indexed as
Identifiers
8808598PMC1914786W2132311925What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.