The spinal muscular atrophies (SMAs), characterized by degeneration of spinal cord motor neurons, are among the most common autosomal recessive disorders. We have previously reported the characterization of an SMA-associated gene designated NAIP (neuronal apoptosis inhibitory protein). This gene, which encodes a protein homologous to the baculoviral inhibitor of apoptosis proteins, is deleted in a significant proportion of individuals with type I SMA, is expressed in motor neurons, and inhibits apoptosis both in vitro and in vivo. Here we present the cloning and characterization of multiple copies of the mouse homologue of NAIP, Naip1-Naip6. Our analysis of the genomic organization of Naip indicated the existence of a minimum of six distinct Naip loci in the 129/SvJ mouse strain. However, Southern blot analysis revealed that only three of these loci contained the 5'UTR element essential for translation in the CNS. The coding region of one of these three potentially functional loci (Naip1) demonstrates 77% homology to NAIP at the nucleotide level and 68% identity at the amino acid level.
Copyright 1998 Academic Press.