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 autos omal recessive disorders. The SMA region of chromosome 5q13.1 is disti nguished by variable amplification of genomic sequence incorporating a number of genes and pseudogenes. Recently, two SMA candidate genes ma pping to this area were identified: survival motor neuron (SMN) and ne uronal apoptosis inhibitory protein (NAIP). The telomeric copy of SMN (SMNtel is deleted in over 95% of cases of SMA, with NAIP deletions pr imarily seen in type I SMA. We present here 131 kb of genomic sequence from 5q13.1 incorporating both NAIP and SMNtel in addition to revisio ns of the original NAIP cDNA sequence. The Alu-rich NAIP-SMNtel interv al contains the microsatellite polymorphisms that are deleted in as ma ny as 80% of type I SMA chromosomes, focusing attention on this region in the pathogenesis of type I SMA. (C) 1998 Academic Press.