The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

Natalie Roy, Mani S. Mahadevan, Michael McLean, Gary Shutter, Zahra Yaraghi, Reza Farahani, Stephen Baird, Anne Besner-Johnston, Charles Lefebvre, Xiaolin Kang, Maysoon Salih, Huguette Aubry, Katsuyuki Tamai, Xiaoping Guan, Panayiotis Ioannou, Thomas O. Crawford, Pieter J. de Jong, Linda Surh, Joh E. Ikeda, Robert G. KornelukAlex MacKenzie

Research output: Contribution to journalArticlepeer-review

Abstract

The spinal muscular atrophies (SMAs), characterized by spinal cord motor neuron depletion, are among the most common autosomal recessive disorders. One model of SMA pathogenesis invokes an inappropriate persistence of normally occurring motor neuron apoptosis. Consistent with this hypothesis, the novel gene for neuronal apoptosis inhibitory protein (NAIP) has been mapped to the SMA region of chromosome 5q13.1 and is homologous with baculoviral apoptosis inhibitor proteins. The two first coding exons of this gene are deleted in approximately 67% of type I SMA chromosomes compared with 2% of non-SMA chromosomes. Furthermore, RT-PCR. analysis reveals internally deleted and mutated forms of the NAIP transcript in type I SMA individuals and not in unaffected individuals. These findings suggest that mutations in the NAIP locus may lead to a failure of a normally occurring inhibition of motor neuron apoptosis resulting in or contributing to the SMA phenotype.

Original languageEnglish (US)
Pages (from-to)167-178
Number of pages12
JournalCell
Volume80
Issue number1
DOIs
StatePublished - Jan 13 1995

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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