Ontology highlight
ABSTRACT:
SUBMITTER: Gardner JM
PROVIDER: S-EPMC23134 | biostudies-literature | 1997 Aug
REPOSITORIES: biostudies-literature
Gardner J M JM Wildenberg S C SC Keiper N M NM Novak E K EK Rusiniak M E ME Swank R T RT Puri N N Finger J N JN Hagiwara N N Lehman A L AL Gales T L TL Bayer M E ME King R A RA Brilliant M H MH
Proceedings of the National Academy of Sciences of the United States of America 19970801 17
The recessive mutation at the pale ear (ep) locus on mouse chromosome 19 was found to be the homologue of human Hermansky-Pudlak syndrome (HPS). A positional cloning strategy using yeast artificial chromosomes spanning the HPS locus was used to identify the HPS gene and its murine counterpart. These genes and their predicted proteins are highly conserved at the nucleotide and amino acid levels. Sequence analysis of the mutant ep gene revealed the insertion of an intracisternal A particle element ...[more]