Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
Editor's Notes from literature on RP1-Gene

Recent update from: 02.01.2000

RP1

Notes

Markers: D8S509
Mutation cluster in exon 4 in a 442 nt segment
Initiation codon in exon 2
Sequence similarity to doublecortin (DCX) gene
Markers: D8S2607, D8S2608, D8S2609, D8S2610, D8S601, D8S285

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 8q11-12
	in mouse:

Gene Data

mRNA: ~7 kb

Exons: 4

Primers: complete

Protein Data

Amino acids: 2156 AA

Molecular weight	on SDS-PAGE:
	calculated: 240 kDa

Reference: (1)

RP1

Notes

Markers: D8S509
cDNA: 6991 bp
Protein sequence
Exon-intron boundaries

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 8q11-13
	in mouse:

Gene Data

mRNA: ~7 kb

Exons: 4

Primers: Mutation specific

Protein Data

Amino acids: 2156 AA

Molecular weight	on SDS-PAGE:
	calculated: 240 kDa

Reference: (2)

RP1

Notes

Start codon in exon 2
Database searches indicate function as a protein kinase with developmental-regulatory activity
Shares similarity with human doublecortin homologue (first 320 AA)
Diphosphate kinase motif at 1820 - 1828
3 nuclear localization residues found in the first 700 AA
Possibly transported to the nucleus
Stop codon is not apparent in ORF

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse: cen 1

Gene Data

mRNA: 7 kb

Exons: 4

Primers: available

Protein Data

Amino acids: 2156

Molecular weight	on SDS-PAGE:
	calculated: 240

Reference: (4)

RP1

Notes

Exons: 627 bp, 172 bp, 6165 bp, 135 bp
Oxygen-regulated (hypoxia) as shown in a differential display assay in mice
Retina specific
Expressed in cell bodies and inner segments
Possible transmembrane motif at AA 1120 - 1142
Leucine-zipper motif at AA 1396-1417
Homology region to doublecortin (DCX: AA 28 - 228) (Drosophila bif: AA 486 - 635)
Exon intron boundaries
Amino acid sequence

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 8q11.2-q13
	in mouse:

Gene Data

mRNA: 7 kb

Exons: 4

Primers: available

Protein Data

Amino acids: 2156

Molecular weight	on SDS-PAGE:
	calculated: 240

Reference: (3)

Rp1

Notes

Exclusively expressed in retina

Species: Mus musculus (domesticus)

See also:

Chromosomal localisation	in man:
	in mouse: 1

Gene Data

mRNA: ~5.3 kb

Exons:

Primers: RT-PCR

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (2)

Rp1

Notes

Differtential display showed Rp1 expression to be oxygen-induced.

Species: Mus musculus (domesticus)

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 8 kb

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (3)

References:

1. Bowne, S.J., Daiger, S.P., Inglehearn, C.F., Sohocki, M.M., Malone, K.A., Heckenlively, J.R., Birch, D.R., Bhattacharya, S.S., Bird, A., Hims, M.M., McKie, A.B., and Sullivan, L.S. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. 1999; Am.J.Hum.Genet. 65: A286
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2. Guillonneau, X., Piriev, N.I., Danciger, M., Kozak, C.A., Cideciyan, A.V., Jacobson, S.G., and Farber, D.B. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. 1999; Hum.Mol.Genet. 8: 1541 - 1546.
Goto Top Link to PudMed

3. Pierce, E.A. and Quinn, T.J. A Novel Photoreceptor Gene Is A Candidate Disease Gene For Retinitis Pigmentosa 1. 1999; Invest.Ophthalmol.Vis.Sci. 40: S601
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4. Sullivan, L.S., Heckenlively, J.R., Bowne, S.J., Zuo, J., Hide, W.A., Gal, A., Denton, M., Inglehearn, C.F., Blanton, S.H., and Daiger, S.P. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. 1999; Nat.Genet. 22: 255 - 259.
Goto Top Link to PudMed

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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