Description:
RETINITIS PIGMENTOSA 1; RP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Retinitis Pigmentosa Foundation Collection
Heritable Diseases |
| Class |
Ophthalmologic Disorders |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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114
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Relation to Proband
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paternal cousin
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
RP1 |
| Chromosomal Location |
8q11-q13 |
| Allelic Variant 1 |
603937.0001; RETINITIS PIGMENTOSA 1 |
| Identified Mutation |
ARG677TER; In a patient with autosomal dominant retinitis pigmentosa (180100), Pierce et al. (Nat Genet 22:248-254, 1999) found a C-to-T transition in exon 4 of the RP1 gene, resulting in a nonsense mutation, CGA (arg) to TGA (ter). This mutant allele, if expressed, would encode a protein of 676 amino acids, 1,480 less than the predicted wildtype RP1 protein. The mutation was first identified in the family in which Blanton et al. (Genomics 11:857-869, 1991) identified linkage to chromosome 8. |
| Remarks |
Clinically affected; father & paternal grandfather were affected; daughter of GM10149; sister of GM08947, 10148, 10142, 10127A, 10128, 10131, 10130, 10134, & 10137A; mother of GM10537 & 10525; donor subject has a C>T transition at nucleotide 2029 in exon 4 of the RP1 gene [2029C>T] resulting in a substitution of a stop codon for arginine at codon 677 [Arg677Ter (R677X)].
Reassigned to Family 2110; formerly listed in family 2111, a continuation of Family 2110 |
| Petrovick MS, Boettcher T, Fremont-Smith P, Peragallo C, Ricke DO, Watkins J, Schwoebel E, Analysis of complex DNA mixtures using massively parallel sequencing of SNPs with low minor allele frequencies Forensic science international Genetics46:102234 2019 |
| PubMed ID: 32018060 |
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| Sullivan LS, Heckenlively JR, Bowne SJ, Zuo J, Hide WA, Gal A, Denton M, Inglehearn CF, Blanton SH, Daiger SP, Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa Nature genetics22:255-9 1999 |
| PubMed ID: 10391212 |
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| Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, Friedman LH, Daiger SP, Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics11:857-69 1991 |
| PubMed ID: 1783394 |
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| Field LL, Heckenlively JR, Sparkes RS, Garcia CA, Farson C, Zedalis D, Sparkes MC, Crist M, Tideman S, Spence MA, Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa. J Med Genet19:266-70 1982 |
| PubMed ID: 7120314 |
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| Heckenlively JR, Pearlman JT, Sparkes RS, Spence MA, Zedalis D, Field L, Sparkes M, Crist M, Tideman S, Possible assignment of a dominant retinitis pigmentosa gene to chromosome 1. Ophthalmic Res14:46-53 1982 |
| PubMed ID: 6803203 |
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| Spence MA, Sparkes RS, Heckenlively JR, Pearlman JT, Zedalis D, Sparkes M, Crist M, Tideman S, Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1. Am J Hum Genet29:397-404 1977 |
| PubMed ID: 879170 |
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