• Register
X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

X

Leaving Community

Are you sure you want to leave this community? Leaving the community will revoke any permissions you have been granted in this community.

No
Yes

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.

Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous disease involving abnormalities of melanosomes, platelet dense granules and lysosomes. Here we have used positional candidate and transgenic rescue approaches to identify the genes mutated in ruby-eye 2 and ruby-eye mice (ru2 and ru, respectively), two 'mimic' mouse models of HPS. We also show that these genes are orthologs of the genes mutated in individuals with HPS types 5 and 6, respectively, and that their protein products directly interact. Both genes are previously unknown and are found only in higher eukaryotes, and together represent a new class of genes that have evolved in higher organisms to govern the synthesis of highly specialized lysosome-related organelles.

Pubmed ID: 12548288

Authors

  • Zhang Q
  • Zhao B
  • Li W
  • Oiso N
  • Novak EK
  • Rusiniak ME
  • Gautam R
  • Chintala S
  • O'Brien EP
  • Zhang Y
  • Roe BA
  • Elliott RW
  • Eicher EM
  • Liang P
  • Kratz C
  • Legius E
  • Spritz RA
  • O'Sullivan TN
  • Copeland NG
  • Jenkins NA
  • Swank RT

Journal

Nature genetics

Publication Data

February 31, 2003

Associated Grants

None

Mesh Terms

  • Adaptor Protein Complex 3
  • Adaptor Protein Complex beta Subunits
  • Adaptor Proteins, Vesicular Transport
  • Adult
  • Amino Acid Sequence
  • Animals
  • COS Cells
  • Cercopithecus aethiops
  • Child, Preschool
  • Chromosomes, Artificial, Bacterial
  • Chromosomes, Artificial, P1 Bacteriophage
  • Disease Models, Animal
  • Drosophila Proteins
  • Female
  • Hermanski-Pudlak Syndrome
  • Humans
  • Insect Proteins
  • Male
  • Melanosomes
  • Membrane Proteins
  • Membrane Transport Proteins
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Mutation
  • Oligopeptides
  • Peptides
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Proteins
  • Proto-Oncogene Proteins c-myc
  • Saccharomyces cerevisiae
  • Sequence Homology, Amino Acid
  • Transfection
  • Two-Hybrid System Techniques