Ocular albinism: Evidence for a defect in an intracellular signal transduction system

M. Vittoria Schiaffino, Marilena D'Addio, Anna Alloni, Cinzia Baschirotto, Caterina Valetti, Katia Cortese, Claudia Puri, M. Teresa Bassi, Cristina Colla, Michele De Luca, Carlo Tacchetti, Andrea Ballabio

Research output: Contribution to journalArticle

96 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)108-112
Number of pages5
JournalNature Genetics
Volume23
Issue number1
DOIs
Publication statusPublished - Sep 1999

Fingerprint

Ocular Albinism
G-Protein-Coupled Receptors
Signal Transduction
Heterotrimeric GTP-Binding Proteins
Cell Membrane
Melanosomes
Membranes
Membrane Glycoproteins
Organelles
Genes
Proteins

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Schiaffino, M. V., D'Addio, M., Alloni, A., Baschirotto, C., Valetti, C., Cortese, K., ... Ballabio, A. (1999). Ocular albinism: Evidence for a defect in an intracellular signal transduction system. Nature Genetics, 23(1), 108-112. https://doi.org/10.1038/12715

Ocular albinism : Evidence for a defect in an intracellular signal transduction system. / Schiaffino, M. Vittoria; D'Addio, Marilena; Alloni, Anna; Baschirotto, Cinzia; Valetti, Caterina; Cortese, Katia; Puri, Claudia; Bassi, M. Teresa; Colla, Cristina; De Luca, Michele; Tacchetti, Carlo; Ballabio, Andrea.

In: Nature Genetics, Vol. 23, No. 1, 09.1999, p. 108-112.

Research output: Contribution to journalArticle

Schiaffino, MV, D'Addio, M, Alloni, A, Baschirotto, C, Valetti, C, Cortese, K, Puri, C, Bassi, MT, Colla, C, De Luca, M, Tacchetti, C & Ballabio, A 1999, 'Ocular albinism: Evidence for a defect in an intracellular signal transduction system', Nature Genetics, vol. 23, no. 1, pp. 108-112. https://doi.org/10.1038/12715
Schiaffino, M. Vittoria ; D'Addio, Marilena ; Alloni, Anna ; Baschirotto, Cinzia ; Valetti, Caterina ; Cortese, Katia ; Puri, Claudia ; Bassi, M. Teresa ; Colla, Cristina ; De Luca, Michele ; Tacchetti, Carlo ; Ballabio, Andrea. / Ocular albinism : Evidence for a defect in an intracellular signal transduction system. In: Nature Genetics. 1999 ; Vol. 23, No. 1. pp. 108-112.
@article{67a4ed311e0e42c6abdb92ae08ab3e4c,
title = "Ocular albinism: Evidence for a defect in an intracellular signal transduction system",
abstract = "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.",
author = "Schiaffino, {M. Vittoria} and Marilena D'Addio and Anna Alloni and Cinzia Baschirotto and Caterina Valetti and Katia Cortese and Claudia Puri and Bassi, {M. Teresa} and Cristina Colla and {De Luca}, Michele and Carlo Tacchetti and Andrea Ballabio",
year = "1999",
month = "9",
doi = "10.1038/12715",
language = "English",
volume = "23",
pages = "108--112",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "1",

}

TY - JOUR

T1 - Ocular albinism

T2 - Evidence for a defect in an intracellular signal transduction system

AU - Schiaffino, M. Vittoria

AU - D'Addio, Marilena

AU - Alloni, Anna

AU - Baschirotto, Cinzia

AU - Valetti, Caterina

AU - Cortese, Katia

AU - Puri, Claudia

AU - Bassi, M. Teresa

AU - Colla, Cristina

AU - De Luca, Michele

AU - Tacchetti, Carlo

AU - Ballabio, Andrea

PY - 1999/9

Y1 - 1999/9

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=0032820144&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032820144&partnerID=8YFLogxK

U2 - 10.1038/12715

DO - 10.1038/12715

M3 - Article

C2 - 10471510

AN - SCOPUS:0032820144

VL - 23

SP - 108

EP - 112

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 1

ER -