title: Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.
abstract: 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 SMNtel in addition to revisions of the original NAIP cDNA sequence. The Alu-rich NAIP-SMNtel interval 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.
authors.affiliation: Solange Gauthier Karsh Laboratory, Children's Hospital of Eastern Ontario, Ottawa, Canada.
authors.forename: Q
authors.initials: Q
authors.lastname: Chen
authors.forename: S D
authors.initials: SD
authors.lastname: Baird
authors.forename: M
authors.initials: M
authors.lastname: Mahadevan
authors.forename: A
authors.initials: A
authors.lastname: Besner-Johnston
authors.forename: R
authors.initials: R
authors.lastname: Farahani
authors.forename: J
authors.initials: J
authors.lastname: Xuan
authors.forename: X
authors.initials: X
authors.lastname: Kang
authors.forename: C
authors.initials: C
authors.lastname: Lefebvre
authors.forename: J E
authors.initials: JE
authors.lastname: Ikeda
authors.forename: R G
authors.initials: RG
authors.lastname: Korneluk
authors.forename: A E
authors.initials: AE
authors.lastname: MacKenzie
mesh_terms: D000595:Amino Acid Sequence; D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence; D002895:Chromosomes, Human, Pair 5; D018076:DNA, Complementary; D017353:Gene Deletion; D006801:Humans; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D051616:Neuronal Apoptosis-Inhibitory Protein; D016366:Open Reading Frames; D011110:Polymorphism, Genetic; D017411:Ribonucleoproteins, Small Nuclear; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D018076:DNA, Complementary; C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins