ArticleProceedings of the National Academy of Sciences of the United States of America1993
Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 58 citations in OpenAlex.
- Modeling neuromuscular diseases in zebrafish.Frontiers in molecular neuroscience · 2022Review
- Spinal muscular atrophy: untangling the knot?Journal of medical genetics · 1999Review
- 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
- Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.American journal of human genetics · 1997Article
- When is a deletion not a deletion? When it is converted.American journal of human genetics · 1997Review
- Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.American journal of human genetics · 1997Article
- Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.American journal of human genetics · 1996Article
- Molecular genetics of autosomal recessive spinal muscular atrophy.Molecular medicine (Cambridge, Mass.) · 1996Review
- Gene deletions in spinal muscular atrophy.Journal of medical genetics · 1996Article
- A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis.Human genetics · 1995Article
- A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy.Human genetics · 1995Article
- Mapping of a human rRNA gene in the YAC contig surrounding the SMA candidate gene.Human genetics · 1995Article
- Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
- Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.Journal of medical genetics · 1995Article
- Refinement of the spinal muscular atrophy locus by genetic and physical mapping.American journal of human genetics · 1995Article
- Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.American journal of human genetics · 1994Article
- Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.American journal of human genetics · 1994Article
- High-resolution genetic map and YAC contig around the mouse neurological locus reeler.Mammalian genome : official journal of the International Mammalian Genome Society · 1994Article
- Fine mapping of human PI 3-kinase associated p85 alpha transcripts in the YAC contig surrounding the spinal muscular atrophy gene.Human genetics · 1994Article
- Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.American journal of human genetics · 1994Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
The childhood spinal muscular atrophies (SMAs) are the most common, serious neuromuscular disorders of childhood second to Duchenne muscular dystrophy. A single locus for these disorders has been mapped by recombination events to a region of 0.7 centimorgan (range, 0.1-2.1 centimorgans) between loci D5S435 and MAP1B on chromosome 5q11.2-13.3. By using PCR amplification to screen yeast artificial chromosome (YAC) DNA pools and the PCR-vectorette method to amplify YAC ends, a YAC contig was constructed across the disease gene region. Nine walk steps identified 32 YACs, including a minimum of seven overlapping YAC clones (average size, 460 kb) that span the SMA region. The contig is characterized by a collection of 30 YAC-end sequence tag sites together with seven genetic markers. The entire YAC contig spans a minimum of 3.2 Mb; the SMA locus is confined to roughly half of this region. Microsatellite markers generated along the YAC contig segregate with the SMA locus in all families where the flanking markers (D5S435 and MAP1B) recombine. Construction of a YAC contig across the disease gene region is an essential step in isolation of the SMA-encoding gene.
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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.