Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

Spinal muscular atrophy (SMA) is a common recessive disorder characterized by the loss of lower motor neurons in the spinal cord. The disease has been classified into three types based on age of onset and severity 1 . SMA I-III all map to chromosome 5q13 (Refs 2 , 3 ), and nearly all patients displa...

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Published inNature genetics Vol. 20; no. 1; pp. 83 - 86
Main Authors Kunkel, Louis M, Scharf, Jeremiah M, Endrizzi, Matthew G, Wetter, Axel, Huang, Sidong, Thompson, Terri G, Zerres, Klaus, Dietrich, William F, Wirth, Brunhilde
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.09.1998
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Abstract Spinal muscular atrophy (SMA) is a common recessive disorder characterized by the loss of lower motor neurons in the spinal cord. The disease has been classified into three types based on age of onset and severity 1 . SMA I-III all map to chromosome 5q13 (Refs 2 , 3 ), and nearly all patients display deletions or gene conversions of the survival motor neuron ( SMN1 ) gene 4 , 5 , 6 , 7 . Some correlation has been established between SMN protein levels and disease course 8 , 9 , 10 ; nevertheless, the genetic basis for SMA phenotypic variability remains unclear, and it has been postulated that the loss of an additional modifying factor contributes to the severity of type I SMA. Using comparative genomics to screen for such a factor among evolutionarily conserved sequences between mouse and human, we have identified a novel transcript, H4F5 , which lies closer to SMN1 than any previously identified gene in the region. A multi-copy microsatellite marker that is deleted in more than 90% of type I SMA chromosomes is embedded in an intron of this gene, indicating that H4F5 is also highly deleted in type I SMA chromosomes, and thus is a candidate phenotypic modifier for SMA.
AbstractList Spinal muscular atrophy (SMA) is a common recessive disorder characterized by the loss of lower motor neurons in the spinal cord. The disease has been classified into three types based on age of onset and severity. SMA I-III all map to chromosome 5q13 (refs 2,3), and nearly all patients display deletions or gene conversions of the survival motor neuron (SMN1) gene. Some correlation has been established between SMN protein levels and disease course; nevertheless, the genetic basis for SMA phenotypic variability remains unclear, and it has been postulated that the loss of an additional modifying factor contributes to the severity of type I SMA. Using comparative genomics to screen for such a factor among evolutionarily conserved sequences between mouse and human, we have identified a novel transcript, H4F5, which lies closer to SMN1 than any previously identified gene in the region. A multi-copy microsatellite marker that is deleted in more than 90% of type I SMA chromosomes is embedded in an intron of this gene, indicating that H4F5 is also highly deleted in type I SMA chromosomes, and thus is a candidate phenotypic modifier for SMA.
Spinal muscular atrophy (SMA) is a common recessive disorder characterized by the loss of lower motor neurons in the spinal cord. The disease has been classified into three types based on age of onset and severity 1 . SMA I-III all map to chromosome 5q13 (Refs 2 , 3 ), and nearly all patients display deletions or gene conversions of the survival motor neuron ( SMN1 ) gene 4 , 5 , 6 , 7 . Some correlation has been established between SMN protein levels and disease course 8 , 9 , 10 ; nevertheless, the genetic basis for SMA phenotypic variability remains unclear, and it has been postulated that the loss of an additional modifying factor contributes to the severity of type I SMA. Using comparative genomics to screen for such a factor among evolutionarily conserved sequences between mouse and human, we have identified a novel transcript, H4F5 , which lies closer to SMN1 than any previously identified gene in the region. A multi-copy microsatellite marker that is deleted in more than 90% of type I SMA chromosomes is embedded in an intron of this gene, indicating that H4F5 is also highly deleted in type I SMA chromosomes, and thus is a candidate phenotypic modifier for SMA.
Spinal muscular atrophy (SMA) is a common recessive disorder characterized by the loss of lower motor neurons in the spinal cord. The disease has been classified into three types based on age of onset and severity. SMA I-III all map to chromosome 5q13, and nearly all patients display deletions or gene conversions of the survival motor neuron (SMN1) gene. Some correlation has been established between SMN protein levels and disease course; nevertheless, the genetic basis for SMA phenotypic variability remains unclear, and it has been postulated that the loss of an additional modifying factor contributes to the severity of type I SMA. Using comparative genomics to screen for such a factor among evolutionarily conserved sequences between mouse and human, we have identified a novel transcript, H4F5, which lies closer to SMN1 than any previously identified gene in the region. A multi-copy microsatellite marker that is deleted in more than 90% of type I SMA chromosomes is embedded in an intron of this gene, indicating that H4F5 is also highly deleted in type I SMA chromosomes, and thus is a candidate phenotypic modifier for SMA.
Author Kunkel, Louis M
Dietrich, William F
Wirth, Brunhilde
Thompson, Terri G
Huang, Sidong
Scharf, Jeremiah M
Wetter, Axel
Zerres, Klaus
Endrizzi, Matthew G
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Issue 1
Keywords Human
Neuromuscular diseases
Nervous system diseases
Nucleotide sequence
Spinal amyotrophy
Homology
Modifier gene
Gene expression
Genetic disease
Central nervous system disease
Phenotype variation
Degenerative disease
Differential expression
Spinal cord disease
Language English
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Snippet Spinal muscular atrophy (SMA) is a common recessive disorder characterized by the loss of lower motor neurons in the spinal cord. The disease has been...
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SubjectTerms Agriculture
Amino Acid Sequence
Animal Genetics and Genomics
Animals
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
Cancer Research
Chromosome Mapping
Chromosomes, Human, Pair 5
Cloning, Molecular
Cyclic AMP Response Element-Binding Protein
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Gene Deletion
Gene Function
Genetic Markers
Homozygote
Human Genetics
Humans
letter
Medical sciences
Mice
Molecular Sequence Data
Muscular Atrophy, Spinal - genetics
Nerve Tissue Proteins - genetics
Nerve Tissue Proteins - metabolism
Neurology
RNA-Binding Proteins
Sequence Homology, Amino Acid
SMN Complex Proteins
Survival of Motor Neuron 1 Protein
Title Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
URI http://dx.doi.org/10.1038/1753
https://link.springer.com/article/10.1038/1753
https://www.ncbi.nlm.nih.gov/pubmed/9731538
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https://search.proquest.com/docview/73897813
Volume 20
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