Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Bassi, Maria Teresa; Schiaffino, Maria Vittoria; Renieri, Alessandra; Nigris, Filomena de; Galli, Lucia; Bruttini, Mirella; Gebbia, Marinella; Bergen, Arthur A. B.; Lewis, R. A.; Ballabio, Andrea

doi:10.1038/ng0595-13

Cited by 179 publications

(155 citation statements)

References 33 publications

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“…Subsequently, Oa1, the murine homolog of OA1, was cloned (14,15) and showed extensive homology to its human counterpart except in its carboxy terminus. OA1 was originally thought to be comprised of six transmembrane (TM) domains and to bear no homology to any previously reported protein (13,14). Recently, however, OA1 has been suggested to be a member of the seven TM group of G-protein coupled receptors (GPCRs) by virtue of its weak similarities to the members of families A, B and E of the GPCR superfamily with the vasoactive intestinal peptide receptor (VIPR) showing the closest homology (16).…”

Section: Gene Cloning and Protein Structure And Localizationmentioning

confidence: 99%

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Ocular Albinism Type 1: More Than Meets The Eye

Shen¹,

Samaraweera²,

Rosenberg³

et al. 2001

Pigment Cell Research

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Section: Gene Cloning and Protein Structure And Localizationmentioning

confidence: 99%

“…Positional cloning led to the identification of the human OA1 gene (13). Subsequently, Oa1, the murine homolog of OA1, was cloned (14,15) and showed extensive homology to its human counterpart except in its carboxy terminus.…”

Section: Gene Cloning and Protein Structure And Localizationmentioning

confidence: 99%

Ocular Albinism Type 1: More Than Meets The Eye

Shen¹,

Samaraweera²,

Rosenberg³

et al. 2001

Pigment Cell Research

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“…A mutation of the GPR143 gene was first identified in an OA1 pedigree by Bassi et al (1995). Since then, approximately 90 GPR143 mutations have been found in OA1, which include approximately 60% missense mutations, and nonsense, frameshift, and splicing site mutations resulting in amino acid deletions (Rosenberg and Schwartz, 1998;Schnur et al, 1998;Oetting, 2002;Peng et al, 2009).…”

Section: Three-dimensional Structure Prediction Of the Mutant Gpr143mentioning

confidence: 99%

“…X-linked congenital nystagmus 6 (NYS6) is a similar disease, but without albinism. Genes or loci for several X-linked congenital nystagmus diseases have been identified, including the FERM domain containing 7 gene (FRMD7) for NYS1 (Tarpey et al, 2006), and both NYS6 and OA1 are caused by mutations in the G protein-coupled receptor 143 gene (GPR143) (Bassi et al, 1995).…”

Section: Introductionmentioning

confidence: 99%

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree

Cai

Zhu²,

Shi³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new diseasecausing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp photography and optical coherence tomography were performed for the proband. Genomic DNA was extracted from a whole blood sample from the proband using the high-salt method. Polymerase chain reaction (PCR) sequencing was carried out for GPR143 and FRMD7 genes. The threedimensional structures of the wild-type and mutant GPR143 proteins were determined using SWISS-MODEL. The transmission of the disease in the pedigree clearly followed an X-linked pattern. The proband had significant iris and fundus hypopigmentation. Optical coherence tomography showed severe foveal hypoplasias in both eyes of the proband. A novel splicing site (G/C) mutation was found on the boundary of the 6th intron and the 7th exon of the GPR143 gene, resulting in a 9-amino-acid deletion (codons 257-265) in the 6th transmembrane domain of the GPR143 protein. In conclusion, a novel splicing site mutation of the GPR143 gene was found in a Han Chinese congenital ocular albinism pedigree.

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“…Examples include the Ocular albinism receptor [56], ITR [57], and GPR108 [58], which are all only present as a single copy in humans.…”

Section: Brief Overview Of Nomenclature Classification and Repertoiresmentioning

confidence: 99%

Present Perspectives on the Automated Classification of the G-Protein Coupled Receptors (GPCRs) at the Protein Sequence Level

Davies¹,

Gloriam²,

Secker³

et al. 2011

CTMC

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The G-protein coupled receptors -or GPCRs -comprise simultaneously one of the largest and one of the most multi-functional protein families known to modern-day molecular bioscience. From a drug discovery and pharmaceutical industry perspective, the GPCRs constitute one of the most commercially and economically important groups of proteins known. The GPCRs undertake numerous vital metabolic functions and interact with a hugely diverse range of small and large ligands. Many different methodologies have been developed to efficiently and accurately classify the GPCRs. These range from motif-based techniques to machine learning as well as a variety of alignment-free techniques based on the physiochemical properties of sequences. We review here the available methodologies for the classification of GPCRs. Part of this work focuses on how we have tried to build the intrinsically hierarchical nature of sequence relations, implicit within the family, into an adaptive approach to classification. Importantly, we also allude to some of the key innate problems in developing an effective approach to classifying the GPCRs: the lack of sequence similarity between the six classes that comprise the GPCR family and the low sequence similarity to other family members evinced by many newly revealed members of the family.3

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Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Cited by 179 publications

References 33 publications

Ocular Albinism Type 1: More Than Meets The Eye

Ocular Albinism Type 1: More Than Meets The Eye

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree

Present Perspectives on the Automated Classification of the G-Protein Coupled Receptors (GPCRs) at the Protein Sequence Level

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