Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
Editor's Notes from literature on Ocular Albinism Gene 1 (OA1)

Recent update from: 03.01.2000

OA1,

Notes

Pigment cell-specific integral membrane glycoprotein
Member of the GPCR superfamily
Not found at the plasmamembrane
Low amino conservation between OA1 and GPCR
Typical hallmarks of GPCR found in OA1:
- Several conserved residues
- Cys in the first and second putative extracellular loops have critical roles
- DRY-like motif at the end of TM3
- Asp, Trp, and Pro in the middle of TM2, 4 and 5
- Sequential Cys in the middle of TM6
G_b and G_ai co-immunoprecipitated with OA1
Targeted to specialised intracellular organelles, the melanosomes
Not processed to the PM
In non-melanocytic cells accumulated in endosomal-lysosomal structures

Species: COS-7 cells

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (3)

OA1,

Notes

Several putative transmembrane domains
No similarities to previously identified molecules
In frame ATG at 1, 61, 313 do not fulfil Kozak's sequence
No Stop codon in cDNA
mRNA in retina, brain, adrenal gland, and melanoma
Possibly membrane protein that assists formation of promelanosomes

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 1.65

Exons: 9

Primers:

Protein Data

Amino acids: 424

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

OA1,

Notes

Exon-Intron boundaries
Genomic structure

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

gDNA: 40 kb

Exons: 9

Primers: complete

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (2)

References:

1. Bassi, M.T., Schiaffino, M.V., Renieri, A., De Nigris, F., Galli, L., Bruttini, M., Gebbia, M., Bergen, A.A.B., Lewis, R.A., and Ballabio, A. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. 1995; Nat.Genet. 10: 13 - 19.
Goto Top Link to PudMed

2. Schiaffino, M.V., Bassi, M.T., Galli, L., Renieri, A., Bruttini, M., Denigris, F., Bergen, A.A.B., Charles, S.J., Yates, J.R.W., Meindl, A., Lewis, R.A., King, R.A., Ballabio, A., De Nigris, F., Yates, J.R., and et al. Analysis of the OA1 gene reveals mutations in only one third of patients with X-linked ocular albinism. 1995; Hum.Mol.Genet. 4: 2319 - 2325.
Goto Top Link to PudMed

3. Schiaffino, M.V., d'Addio, M., Alloni, A., Baschirotto, C., Valetti, C., Cortese, K., Puri, C., Bassi, M.T., Colla, C., De Luca, M., Tacchetti, C., and Ballabio, A. Ocular albinism: evidence for a defect in an intracellular signal transduction system. 1999; Nat.Genet. 23: 108 - 112.
Goto Top Link to PudMed

	Return to Retina International's Scientific Newsletter	Return to page head
Contact the editor: irpamp@irpa.org	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz