C. Mas et al., Cloning and expression analysis of a novel gene, RP42, mapping to an autism susceptibility locus on 6q16, GENOMICS, 65(1), 2000, pp. 70-74
We isolated a novel mouse gene, RP42, in a systematic search for genes expr
essed in proliferating neuroblasts whose human orthologs map to suspectibil
ity loci for autism. This gene is intronless and encodes a putative 259-ami
no-acid protein that exhibits 30-36% overall sequence identity to a fission
yeast and a nematode protein (GenPept Accession Nos. CAA17006 and CAB54261
). Nevertheless, no homology to any known gene was found. RP42 has developm
entally regulated expression, particularly in proliferating neuroblasts fro
m which neocortical neurons originate. Its human ortholog is located in a c
luster of embryonic neuronally expressed genes on the 6q16 chromosome, maki
ng it a positional candidate susceptibility gene for autism, (C) 2000 Acade
mic Press.