PMID- 10471510
OWN - NLM
STAT- MEDLINE
DCOM- 19990923
LR  - 20220129
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 23
IP  - 1
DP  - 1999 Sep
TI  - Ocular albinism: evidence for a defect in an intracellular signal transduction
      system.
PG  - 108-12
AB  - G protein-coupled receptors (GPCRs) participate in the most common signal
      transduction system at the plasma membrane. The wide distribution of
      heterotrimeric G proteins in the internal membranes suggests that a similar
      signalling mechanism might also be used at intracellular locations. We provide
      here structural evidence that the protein product of the ocular albinism type 1
      gene (OA1), a pigment cell-specific integral membrane glycoprotein, represents a 
      novel member of the GPCR superfamily and demonstrate that it binds heterotrimeric
      G proteins. Moreover, we show that OA1 is not found at the plasma membrane, being
      instead targeted to specialized intracellular organelles, the melanosomes. Our
      data suggest that OA1 represents the first example of an exclusively
      intracellular GPCR and support the hypothesis that GPCR-mediated signal
      transduction systems also operate at the internal membranes in mammalian cells.
FAU - Schiaffino, M V
AU  - Schiaffino MV
AD  - Telethon Institute of Genetics and Medicine, 20132 Milan. schiaffi@tigem.it
FAU - d'Addio, M
AU  - d'Addio M
FAU - Alloni, A
AU  - Alloni A
FAU - Baschirotto, C
AU  - Baschirotto C
FAU - Valetti, C
AU  - Valetti C
FAU - Cortese, K
AU  - Cortese K
FAU - Puri, C
AU  - Puri C
FAU - Bassi, M T
AU  - Bassi MT
FAU - Colla, C
AU  - Colla C
FAU - De Luca, M
AU  - De Luca M
FAU - Tacchetti, C
AU  - Tacchetti C
FAU - Ballabio, A
AU  - Ballabio A
LA  - eng
GR  - A.041/TI_/Telethon/Italy
GR  - E.0583/TI_/Telethon/Italy
GR  - TGM06S01/TI_/Telethon/Italy
GR  - TGM97000/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Eye Proteins)
RN  - 0 (GPR143 protein, human)
RN  - 0 (Membrane Glycoproteins)
RN  - 0 (Recombinant Proteins)
RN  - EC 3.6.1.- (GTP-Binding Proteins)
SB  - IM
MH  - Albinism, Ocular/*genetics
MH  - Amino Acid Sequence
MH  - Animals
MH  - COS Cells
MH  - Eye Proteins/genetics/*physiology
MH  - GTP-Binding Proteins/physiology
MH  - Humans
MH  - Intracellular Membranes/*physiology
MH  - Lysosomes/metabolism
MH  - Melanocytes/cytology/metabolism
MH  - Membrane Glycoproteins/genetics/*physiology
MH  - Models, Biological
MH  - Molecular Sequence Data
MH  - Mutagenesis, Site-Directed
MH  - Mutation
MH  - Mutation, Missense
MH  - Recombinant Proteins/metabolism
MH  - Sequence Homology, Amino Acid
MH  - *Signal Transduction
MH  - Transfection
EDAT- 1999/09/02 09:00
MHDA- 2001/03/23 10:01
CRDT- 1999/09/02 09:00
PHST- 1999/09/02 09:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/09/02 09:00 [entrez]
AID - 10.1038/12715 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Sep;23(1):108-12. doi: 10.1038/12715.