@article{5c91aea911374da0a423e9b09a3d1fa0,
title = "The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy",
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.",
author = "Natalie Roy and Mahadevan, {Mani S.} and Michael McLean and Gary Shutter and Zahra Yaraghi and Reza Farahani and Stephen Baird and Anne Besner-Johnston and Charles Lefebvre and Xiaolin Kang and Maysoon Salih and Huguette Aubry and Katsuyuki Tamai and Xiaoping Guan and Panayiotis Ioannou and Crawford, {Thomas O.} and {de Jong}, {Pieter J.} and Linda Surh and Ikeda, {Joh E.} and Korneluk, {Robert G.} and Alex MacKenzie",
note = "Funding Information: Correspondence should be addressed to A. M. This work was funded by the following grants: to A. M. by the Muscular Dystrophy Association of Canada (MDAC), the Muscular Dystrophy Association of the United States (MDA), the Children's Hospital of Eastern Ontario Research Foundation, and the Medical Research Council of Canada (MRC); to R. G. K. and J.-E. I. by the Research Development Corporation of Japan and the Networks of Centres of Excellence (Canadian Genetic Diseases Network); to P. J. d. J. and X. G. by the Cancer Center Support Grant at Roswell Park Center Institute (CA-16056), by National Institutes Health grant 1R01RG01165-01, and by Department of Energy grant DE-FG02-94ER61883. N. R. is supported by an MDAC fellowship. M. S. M. is an MRC postdoctoral fellow, and R. G. K. is an MRC scientist. A. M. is an Ontario Ministry of Health career scientist. We wish to thank L. Deaven for the generous gift of the chromosome 5 library. We are grateful to K. Stoddard and A. Sukhedo for their productive work on the project. We wish to thank the following people for technical and other assistance: J. Barcel6, J. Earle-MacDonald, M. Foitzik, M. Higgins, D. Lahey, S. Leblond, N. Lemieux, L. McAuley, G. Mettler, L. Podolsky, E. Separovic, S. Soder, M. J. Somerville, and J. Wang. We thank Drs. J. Edwards, H. Sarnat, H. Heick, and A. Hunter for informed commentary. We are grateful to Drs. N. Stirpe (MDA), M. Conneally(MDA), T. Munsat (MDA), A. Emery(European Neuromuscular Center), and Mr. Y. Poortman (European Neuromuscular Center) for their efforts in guiding the international SMA consortium as well as to the following members of the consortium for their exchange of data prior to publication: C. Brahe, A. Burghes, C. Buys, K. Davies, C. Gilliam, L. Kunkel, J. McPherson, J. Melki, B. Russman, F. Samaha, L. Simard, B. Wirth, and G. van der Steege. Finally, we wish to thank the various Canadian clinicians and particularly the SMA families who have been so supportive and given so freely to our work.",
year = "1995",
month = jan,
day = "13",
doi = "10.1016/0092-8674(95)90461-1",
language = "English (US)",
volume = "80",
pages = "167--178",
journal = "Cell",
issn = "0092-8674",
publisher = "Elsevier B.V.",
number = "1",
}