Chromosomal Structure of the Human TYRP1 and TYRP2 Loci and Comparison of the Tyrosinase-Related Protein Gene Family

Sturm, Richard A.; O’Sullivan, B.; Box, Neil F.; Smith, Aaron G.; Smit, Sonia E.; Puttick, Emma R.J.; Parsons, Peter G.; Dunn, Ian S.

doi:10.1006/geno.1995.1211

Cited by 67 publications

(61 citation statements)

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“…Polymorphic microsatellite markers contained within the TYR, 43 TYRP1 44,45 and DCT 28,45 loci were amplified as described and analyzed on 6% polyacrylamide sequencing gels before visualization by autoradiography. An ACdinucleotide polymorphic marker derived from an OCA2 locus BAC clone PR11-322N14 of 149 bp and within intron 17 of the gene was assayed …”

Section: Microsatellite Analysismentioning

confidence: 99%

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community

et al. 2009

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Oculocutaneous albinism type 2 (OCA2) is a human autosomal-recessive hypopigmentation disorder associated with pathological mutations of the OCA2 gene. In this study, we investigated a form of OCA in a Polynesian population with an observed phenotype characterized by fair skin, some brown nevi present in the sun-exposed areas and green or blue eyes. Hair presented with a unique red coloration since birth, with tones ranging across individuals from Yellow-Red to Brown-Red, or Auburn. We genetically screened for mutations in the OCA2 and MC1R genes as their products have previously been shown to be associated with red hair/fair skin and OCA2. The SLC45A2 gene was also screened to identify any possible relation to skin color variation. We have identified a novel missense substitution in the OCA2 gene (Gly775Asp) responsible for OCA2 in individuals of Polynesian heritage from Tuvalu. The estimated incidence of this form of OCA2 in the primary study community is believed to occur at one of the highest recorded rates of albinism at approximately 1 per 669 individuals. In addition, we have analyzed four unrelated individuals with albinism who have Polynesian heritage from three other separate communities and found they carry the same OCA2 mutation. We also analyzed an out-group comprising three unrelated individuals with albinism of Melanesian ancestries from two separate communities, one Australian Aboriginal and three Australian Caucasians, and did not detect this mutation. We hypothesize that this mutation may be Polynesian specific and that it originated from a common founder.

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Section: Microsatellite Analysismentioning

confidence: 99%

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community

et al. 2009

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“…The mature glycosylated protein has a molecular weight of about 75 kDa [21,30]. Between human and mouse, a high degree of sequence identity is existing in coding sequence (> 90%) and the promoter (up to 80%) [3,4,6].…”

Section: Tyrosinase-related Protein-imentioning

confidence: 99%

“…Although the organization of exons and introns is divergent, some positions are nevertheless identical, thus suggesting a common ancestral gene (Fig. 2) [3,4]. Sequences of the promoter regions were compared with identify conserved regulatory elements involved in pigment cell-specific gene expression.…”

Section: Introductionmentioning

confidence: 99%

Tyrosinase and related proteins in mammalian pigmentation

Marmol

Beermann²

1996

FEBS Letters

410

260

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Tyrosinase is the key enzyme in pigment synthesis, initiating a cascade of reactions which convert the amino acid tyrosine to the melanin biopolymer. Two other tyrosinase-related proteins (TRP) are known, TRP-1 (probably DHICAoxidase) and TRP-2 (DOPAchrome tautomerase). These proteins show about 40% homology, and recent results have indicated that the genes might be derived from a common ancestor. We will discuss recent findings on genomic organization, and on the proteins and their presumed function, which is important for eumelanin synthesis in mouse and man.

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“…As outlined in Chapter 3, tyrosinases also contribute to calcified structures, such as molluscan shells (Nagai et al 2007, Mann et al 2012, Marie et al 2012b, Zhang et al 2012. Despite the broad distribution and importance of type-3 copper proteins, the evolution of this superfamily has only been studied in detail in plants (catechol oxidases) and specific animal lineages, including chordates (tyrosinases and tyrosinase relatedproteins), arthropods (tyrosinases and hemocyanins) (Morrison et al 1994, Sturm et al 1995, Burmester and Scheller 1996, Decker and Terwilliger 2000, Lieb et al 2001, Burmester 2002, Camacho-Hubner et al 2002, Esposito et al 2012, Tran et al 2012) and molluscs (tyrosinases) (Chapter 3).…”

mentioning

confidence: 99%

“…In chordates, gene structure and phylogenetic analyses suggest that tyrosinase arose from a single ancestral gene (Jackson 1994, Morrison et al 1994, Sturm et al 1995 that duplicated before the divergence of urochordate and vertebrate lineages (Sato and Yamamoto 2001), leading to genes encoding tyrosinase and tyrosinase related-proteins. The latter then duplicated early in vertebrate evolution, giving rise to tyrosinase related-proteins 1 and 2 (Morrison et al 1994, Camacho-Hubner et al 2002, Esposito et al 2012.…”

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confidence: 99%

Investigation of gene family evolution and the molecular basis of shell formation in molluscs

Aguilera¹

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Since the emergence of shell-bearing molluscs in the Early Cambrian, diverse shell forms have evolved. Modern molluscs are renowned for a highly complex and robust shell, which is the product of the orchestrated expression of genes and secretion of a large number of proteins and other macromolecules from the epithelium of a specialised organ called the mantle. Molluscan shells display remarkable morphological diversity, structure and ornamentation, however the molecular mechanisms underlying the evolution and formation of the shell remain largely unknown. In this thesis, I seek to investigate the nature of the mantle transcriptome focussing on the timing of origin of genes expressed in the mantle and the evolutionary history of gene families that encode secreted proteins in representatives of bivalve and gastropod species.First, by comparative transcriptomics of the mantle, I determined the origin and evolution of gene families expressed in this organ. Gene origin analyses show that most genes expressed in the mantle are taxon-restricted innovations (i.e. unique to a particular species), although a large number of genes arose along the stems leading to the bilaterian and molluscan last common ancestors. Focussing on gene families that encode secreted proteins that are likely to be embedded within the shell and/or to regulate shell construction, I found that these are comprised of both ancient and lineage-specific gene families. The evolution of these gene families is highly dynamic with prolific gene family gains and losses over evolutionary time. By comparing sequences, I also detected indications of positively selected gene families over molluscan evolution. These gene families show unique patterns of enrichment of protein domains, and presumably molecular functions, that are taxa-specific, suggesting that bivalves and gastropods use almost completely different secretory repertoire to construct their shells.I then focused on an ancient gene family expressed in the molluscan mantles -the tyrosinase gene family -to understand how a conserved gene family has been co-opted into the biomineralisation pathway. I found no evidence of large-scale expansion of tyrosinase genes in gastropods, whereas tyrosinase genes in bivalves have undergone substantial independent gene expansions in at least two lineages (Pinctada spp. and Crassostrea gigas), and that the resulting gene duplicates have been co-opted into the mantle gene regulatory network. Many of the tyrosinase genes are found in clusters within the genomes and are expressed at relatively high levels in the mantle. Detailed 3 comparisons of tyrosinase gene expression in different regions of the mantle in two closely related pearl oysters, P. maxima and P. margaritifera, reveal that recently evolved orthologous genes have unique expression profiles across the mantle with high expression levels at the distal mantle edge, suggesting roles in colouration and/or prismatic shell layer construction. Differences in expression levels are consistent with the rapid evo...

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Chromosomal Structure of the Human TYRP1 and TYRP2 Loci and Comparison of the Tyrosinase-Related Protein Gene Family

Cited by 67 publications

References 0 publications

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community

Tyrosinase and related proteins in mammalian pigmentation

Investigation of gene family evolution and the molecular basis of shell formation in molluscs

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