Human Molecular Genetics, Vol 8, 533-542, Copyright © 1999 by Oxford University Press
Y Ji, MJ Walkowicz, K Buiting, DK Johnson, RE Tarvin, EM Rinchik, B Horsthemke, L Stubbs and RD Nicholls
Transcribed, low-copy repeat elements are associated with the breakpoint
regions of common deletions in Prader-Willi and Angelman syndromes. We
report here the identification of the ancestral gene ( HERC2 ) and a family
of duplicated, truncated copies that comprise these low-copy repeats. This
gene encodes a highly conserved giant protein, HERC2, that is distantly
related to p532 (HERC1), a guanine nucleotide exchange factor (GEF)
implicated in vesicular trafficking. The mouse genome contains a single
Herc2 locus, located in the jdf2 (juvenile development and fertility-2)
interval of chromosome 7C. We have identified single nucleotide splice
junction mutations in Herc2 in three independent
N-ethyl-N-nitrosourea-induced jdf2 mutant alleles, each leading to exon
skipping with premature termination of translation and/or deletion of
conserved amino acids. Therefore, mutations in Herc2 lead to the
neuromuscular secretory vesicle and sperm acrosome defects, other
developmental abnormalities and juvenile lethality of jdf2 mice. Combined,
these findings suggest that HERC2 is an important gene encoding a GEF
involved in protein trafficking and degradation pathways in the cell.
ARTICLES
The ancestral gene for transcribed, low-copy repeats in the Prader- Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities
Department of Genetics, Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106-4955, USA.
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