Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
Editor's Notes from literature on Peripherin/RDS

Recent update from: 19.12.1999

RDS

Notes

Detergent soluble

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (15)

RDS

Notes

Membrane fusion is enhanced by phosphorylation
Fusion occurs in the presence of Ca²⁺

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (5)

RDS

Notes

Peptide of 16 to 22 terminal AA enhances membrane fusion
Intradiskal parts have no effect on membrane fusion

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (4)

RDS

Notes

rds affects rod and cones

Species:

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (6)

RDS

Notes

Expression in COS-1 cells
Localization in internal membranes
May contain targeting signal to prevent localization to OS plasmamembranes
Homodimers can form tetrameric complexes
4 Membrane domains
Glycosylated monomer
N-linked carbohydrate
Expressed primarily as a disulfide-linked homodimer forming homo- and heterotetramers afterwards

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (10)

rds

Notes

4 transmembrane domains
3 Asp-linked glycosylation consensus sequences
Migrates as d immer on SDS-PAGE
RHO affects the migration of RDS on the SDS-PAGE
Constitutes less than 5% of total disc protein

Species: Bos taurus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 2.9 and 6.5 kb

Exons:

Primers:

Protein Data

Aminoacids: 345 AA

Molecularweight	on SDS-PAGE: 33 kDa
	calculated: 39 kDa

Reference: (8)

RDS

Notes

C150S mutant is incapable of forming disulfide bonds
Sediments solely as a homotetramer
ROM-1 counterpart: C153

Species: COS-1

See also: ROM-1

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (13)

Crds

Notes

IR exclusively in differentiating photoreceptors

Species: Gallus gallus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 4.5 kb

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (20)

Crds

Notes

2 homologues of RDS in chicken retina
No homologues of ROM1
Crds2 is a more distant homologue of mammalian RDS but closer as to Xenopus rds
Forms preferred homotetramers of crds1
Phosphorylated by PRKC

Species: Gallus gallus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (21)

RDS

Notes

Founder effect of Arg 172 Trp mutation in the british population
Flanking markers: D6S1582 and D6S271 (1.2 cM)

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (16)

RDS

Notes

Conserved AA of the large intradiskal loop are essential for prpoper folding and subunit assembly
C150 is responsible for intersubunit disulfide bonds to form tetramers
Disulfide bonds only between tetramers not between dimers
2 models:
1. Oligomers for membrane connection, dimers at rims
2. 4 dimers od rds and rom1 form octomers by disulfide bonds

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (14)

RDS

Notes

Identity to mouse protein >91%; nucleotides 85%
RFLP:
1. ApaI = 1.2 / 0.9 kb = 0.21 / 0.79; 16 kb constant
2. DraI = 7.2 / 4.4 + 2.8 kb = 0.78 / 0.22; 1.6 & 3.6 constant
3. BglII = 4.8 / 4.3 kb = 0.51 / 0.49; 9.1 & 1.6 & 0.9 constant

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 6p12
	in mouse: 17 near H-2

Gene Data

mRNA: 3.0 & 5.5 kb

Exons:

Primers:

Protein Data

Aminoacids: 346 AA

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (18)

rds

Notes

Rabbit-anti-human AB against N-terminus (N-RDS)
Recognizes RDS in POS of retinae of man, macaque, rat
Peptide: ALLKVFDQKKRVK
Unable to precipitate RDS/Peripherin from in-vitro transcription/translation

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (12)

RDS

Notes

Digenic mutations occur with 4 RDS/Peripherin Mutations but only with one ROM1 mutation (Leu 185 Pro)
No single ROM1 mutation has been found to cause RP

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers: Complete

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (9)

rds

Notes

rds-gene in mouse
Dimer in SDS-PAGE, with 2-Mercaptoethanol
Monomer> 5% of total disc protein
Integral membrane protein at the disc rims
Structural model: 4 transmembrane domains
Unknown function
92.5% identical to bovine rds

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse: 17

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (7)

rds

Notes

RDS undergoes autophosphorylation
Co-purifies as a dimer with ROM-1 on hydroxylapatite and Mono Q FPLC
Functions in membrane fusion

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (3)

RDS

Notes

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 1.6 & 2.7 kb

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (18)

rds

Notes

Glycosylation is not required for normal processing of RDS or rescue of rds/- mice
Non-glycosylation causes mild displasy of OS

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (11)

rds

Notes

Glycosylation at Ser 231
Ser 231 Ala mutation lacks glycosylation
Glycosylation has no effect on dimerization

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (19)

rds

Notes

Expressed in photoreceptor cells
Degeneration is photoreceptor specific
3 uncharged regions

Species: Mus musculus

See also:

Chromosomal localisation	in man:
	in mouse: 17

Gene Data

mRNA: 2.7 kb

Exons:

Primers:

Protein Data

Aminoacids: 346 AA>

Molecularweight	on SDS-PAGE:
	calculated: 39259

Reference: (17)

rds

Notes

Ground Squirrel for COS only retina
Present in the disk rims of ROS and COS
Additional IR in the basal region of COS and ROS, restricted to a region adjacent to the cilium where morphogenesis of outer segments takes place
Modell of disc membrane morphogenesis that predicts rim formation as a secondary step
1. PM evagination to form nascent discs
2. Rim formation between upper disc membrane of a nascent disc and lower disc membrane of a more mature disc

Species: Rattus norvegicus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (1)

rds

Notes

Species: Rattus norvegicus

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

cDNA:

Exons:

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (2)

References:

1. Arikawa, K., Molday, L.L., Molday, R.S., and Williams, D.S. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. 1992; J.Cell Biol. 116: 659 - 667.
Goto Top Link to PudMed

2. Begy, C. and Bridges, C.D. Nucleotide and predicted protein sequence of rat retinal degeneration slow (rds). 1990; Nucleic.Acids.Res. 18: 3058
Goto Top Link to PudMed

3. Birch, D.G., Locke, K., Clarke, G., McInnes, R., and Travis, G.H. ERGs In Mice With rds/Peripherin And rom1 Mutations. 1997; Invest.Ophthalmol.Vis.Sci. 38: S316 - A1000.
Goto Top

4. Boesze-Battaglia, K. Peripherin/RDS, A Candidate Fusion Protein In Photoreceptor Rod Cells. 1998; Invest.Ophthalmol.Vis.Sci. 39: S11
Goto Top

5. Boesze-Battaglia, K., Napol, A.J., and Guo, Y. The C-Terminal Region Of Peripherin/RDS Promotes Membrane Adhesion And Model Membrane Fusion. 1998; Invest.Ophthalmol.Vis.Sci. 39: S677
Goto Top

6. Cideciyan, A.V., Jacobson, S.G., Kemp, C.M., Azevedo, D.F.G., Regunath, G., Sheffield, V.C., and Stone, E.M. Photoreceptor function in patients with heterozygous peripherin/RDS gene mutations. 1995; Invest.Ophthalmol.Vis.Sci. Suppl. S913
Goto Top

7. Connell, G., Bascom, R., Molday, L., Reid, D., McInnes, R.R., and Molday, R.S. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. 1991; Proc.Natl.Acad.Sci.U.S.A. 88: 723 - 726.
Goto Top Link to PudMed

8. Connell, G.J. and Molday, R.S. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. 1990; Biochemistry. 29: 4691 - 4698.
Goto Top Link to PudMed

9. Dryja, T.P., Hahn, L.B., Kajiwara, K., and Berson, E.L. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. 1997; Invest.Ophthalmol.Vis.Sci. 38: 1972 - 1982.
Goto Top Link to PudMed

10. Goldberg, A.F.X., Moritz, O.L., and Molday, R.S. Expression and assembly of peripherin/RDS and the peripherin/RDS-ROM-1 complex in COS-1 cells. 1994; Invest.Ophthalmol.Vis.Sci. 35: 1834
Goto Top

11. Kedzierski, W., Bok, D., and Travis, G.H. N Glycosylation Of RDS Peripherin: Role In Protein Processing And The Formation Of Photoreceptor Outer Segments. 1997; Invest.Ophthalmol.Vis.Sci. 38: S1165 - A1000.
Goto Top

12. Kim, R.Y., Bedolli, M.A., and Goodarzi, J. Characterization of antibody against the N-terminus of RDS/peripherin. 1998; Ophthalmic Genet. 19: 165 - 168.
Goto Top Link to PudMed

13. Loewen, C.J.R. and Molday, R.S. Oligomerization Of The Peripherin/RDS-ROM-1 Complex: Possible Role In Disk Structure And Retinitis Pigmentosa. 1998; Invest.Ophthalmol.Vis.Sci. 39: S963
Goto Top

14. Molday, L.L. and Molday, R.S. Structural And Enzymatic Properties Of The ABCR Protein Of Rod Photoreceptors. 1998; Invest.Ophthalmol.Vis.Sci. 39: S963
Goto Top

15. Molday, R.S., Hicks, D., and Molday, L. Peripherin. A rim-specific membrane protein of rod outer segment discs. 1987; Invest.Ophthalmol.Vis.Sci. 28: 50 - 61.
Goto Top

16. Payne, A.M., Dowes, S.M., Bessant, D.A.R., Taylor, R., Holder, G.E., Warren, M.J., Bird, A.C., Bhattacharya, S.S., Downes, S.M., and Bessant, D.A. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. 1998; Hum.Mol.Genet. 7: 273 - 277.
Goto Top Link to PudMed

17. Travis, G.H., Brennan, M.B., Danielson, P.E., Kozak, C.A., and Sutcliffe, J.G. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). 1989; Nature. 338: 70 - 73.
Goto Top Link to PudMed

18. Travis, G.H., Christerson, L., Danielson, P.E., Klisak, I., Sparkes, R.S., Hahn, L.B., Dryja, T.P., and Sutcliffe, J.G. The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. 1991; Genomics. 10: 733 - 739.
Goto Top Link to PudMed

19. Travis, G.H., Horvath, D.H., Weng, J., Megarity, C.F., and Azarian, S.M. Structure Of The RMP Gene (ABCR) Affected In Recessive Stargardt's And Age-Related Macular Degeneration. 1998; Invest.Ophthalmol.Vis.Sci. 39: S300
Goto Top

20. Weng, J., Belecky Adams, T., Adler, R., and Travis, G.H. The Chicken Homolog Of RDS/Peripherin Is Expressed In Photoreceptor Outer Segments. 1996; Invest.Ophthalmol.Vis.Sci. S805
Goto Top

21. Weng, J., Belecky Adams, T., Adler, R., and Travis, G.H. Identification of two rds/peripherin homologs in the chick retina. 1998; Invest.Ophthalmol.Vis.Sci. 39: 440 - 443.
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