Sequence of a 131-kb Region of 5q13.1 Containing the Spinal Muscular Atrophy Candidate Genes SMN and NAIP

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...

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Bibliographic Details
Published in:	Genomics (San Diego, Calif.) Vol. 48; no. 1; pp. 121 - 127
Main Authors:	Chen, Qianfa, Baird, Stephen D., Mahadevan, Mani, Besner-Johnston, Anne, Farahani, Reza, Xuan, JianYing, Kang, Xiaolin, Lefebvre, Charles, Ikeda, Joh-E, Korneluk, Robert G., MacKenzie, Alex E.
Format:	Journal Article
Language:	English
Published:	San Diego, CA Elsevier Inc 15-02-1998 Elsevier
Subjects:	Amino Acid Sequence Autoantigens - genetics Base Sequence Biological and medical sciences Chromosomes, Human, Pair 5 Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA, Complementary Gene Deletion Humans Medical sciences Molecular Sequence Data Muscular Atrophy, Spinal - genetics Nerve Tissue Proteins - genetics Neurology Neuronal Apoptosis-Inhibitory Protein Open Reading Frames Polymorphism, Genetic Ribonucleoproteins, Small Nuclear snRNP Core Proteins Genetic mapping Human Neuromuscular diseases Nervous system diseases Nucleotide sequence Spinal amyotrophy Homology Chromosome B5 Gene Microsatellite DNA Central nervous system disease Deletion Genetics Degenerative disease Mutation Molecular biology Spinal cord disease Polymorphism
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Summary:	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 SMNtelin addition to revisions of the original NAIP cDNA sequence. TheAlu-rich NAIP–SMNtelinterval 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0888-7543 1089-8646
DOI:	10.1006/geno.1997.5141