RGD Reference Report - Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. - Rat Genome Database

RGD Reference Report - Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. - Rat Genome Database

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Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
Authors:	Roosing, S Rohrschneider, K Beryozkin, A Sharon, D Weisschuh, N Staller, J Kohl, S Zelinger, L Peters, TA Neveling, K Strom, TM Van den Born, LI Hoyng, CB Klaver, CC Roepman, R Wissinger, B Banin, E Cremers, FP Den Hollander, AI den Hollander, Anneke I
Citation:	Roosing S, etal., Am J Hum Genet. 2013 Jul 11;93(1):110-7. doi: 10.1016/j.ajhg.2013.05.005. Epub 2013 Jun 6.
RGD ID:	8554122
Pubmed:	PMID:23746546 (View Abstract at PubMed)
PMCID:	PMC3710761 (View Article at PubMed Central)
DOI:	DOI:10.1016/j.ajhg.2013.05.005 (Journal Full-text)
The majority of the genetic causes of autosomal-recessive (ar) cone-rod dystrophy (CRD) are currently unknown. A combined approach of homozygosity mapping and exome sequencing revealed a homozygous nonsense mutation (c.565C>T [p.Glu189]) in RAB28 in a German family with three siblings with arCRD. Another homozygous nonsense mutation (c.409C>T [p.Arg137]) was identified in a family of Moroccan Jewish descent with two siblings affected by arCRD. All five affected individuals presented with hyperpigmentation in the macula, progressive loss of the visual acuity, atrophy of the retinal pigment epithelium, and severely reduced cone and rod responses on the electroretinogram. RAB28 encodes a member of the Rab subfamily of the RAS-related small GTPases. Alternative RNA splicing yields three predicted protein isoforms with alternative C-termini, which are all truncated by the nonsense mutations identified in the arCRD families in this report. Opposed to other Rab GTPases that are generally geranylgeranylated, RAB28 is predicted to be farnesylated. Staining of rat retina showed localization of RAB28 to the basal body and the ciliary rootlet of the photoreceptors. Analogous to the function of other RAB family members, RAB28 might be involved in ciliary transport in photoreceptor cells. This study reveals a crucial role for RAB28 in photoreceptor function and suggests that mutations in other Rab proteins may also be associated with retinal dystrophies.

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Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
Rab28	Rat	ciliary basal body	located_in	IDA		PMID:23746546	UniProt
Rab28	Rat	ciliary rootlet	located_in	IDA		PMID:23746546	UniProt

Objects Annotated

Genes (Rattus norvegicus)

Rab28 (RAB28, member RAS oncogene family)

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