Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1
Background: To identify the sequence variants of the tyrosinase (TYR) gene in Chinese families with oculocutaneous albinism. Methods: Three families with oculocutaneous albinism type 1 and 95 unrelated healthy Chinese individuals with normal pigmentation were screened for mutations in the TYR gene...
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Veröffentlicht in: | Clinical & experimental ophthalmology 2010-01, Vol.38 (1), p.37-42 |
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creator | Liu, Jing Choy, Kwong-Wai Chan, Leo WL Leung, Tak-Yeung Tam, Pancy OS Chiang, Sylvia WY Lam, Dennis SC Pang, Chi-Pui Lai, Timothy YY |
description | Background: To identify the sequence variants of the tyrosinase (TYR) gene in Chinese families with oculocutaneous albinism.
Methods: Three families with oculocutaneous albinism type 1 and 95 unrelated healthy Chinese individuals with normal pigmentation were screened for mutations in the TYR gene by direct sequencing. Computational algorithms were used to characterize the biological significance of the mutants.
Results: Four previously reported mutations (R299C, R299H, W400L and frame‐shift c.930insC) and one novel mutation (F214del) were identified, and probands had homozygous or compound heterozygous TYR mutant alleles. None of the mutants were identified among the 95 normal control subjects. Computational analysis predicted that the R299C mutant inactivates the tyrosinase enzyme by misfolding of protein tertiary structure and/or retention of the misfolded tyrosinase within the endoplasmic reticulum, and F214del causes dysfunction of tyrosine enzyme by affecting the copper binding sites and altering substrate orientation and electronic transfers during catalytic reactions for melanosynthesis.
Conclusion: We have identified five different TYR mutations, including one novel mutation, which caused oculocutaneous albinism type 1 in Chinese. Further analysis of the patients will be useful to determine the effects of these mutations on the tyrosinase activities. |
doi_str_mv | 10.1111/j.1442-9071.2009.02220.x |
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Methods: Three families with oculocutaneous albinism type 1 and 95 unrelated healthy Chinese individuals with normal pigmentation were screened for mutations in the TYR gene by direct sequencing. Computational algorithms were used to characterize the biological significance of the mutants.
Results: Four previously reported mutations (R299C, R299H, W400L and frame‐shift c.930insC) and one novel mutation (F214del) were identified, and probands had homozygous or compound heterozygous TYR mutant alleles. None of the mutants were identified among the 95 normal control subjects. Computational analysis predicted that the R299C mutant inactivates the tyrosinase enzyme by misfolding of protein tertiary structure and/or retention of the misfolded tyrosinase within the endoplasmic reticulum, and F214del causes dysfunction of tyrosine enzyme by affecting the copper binding sites and altering substrate orientation and electronic transfers during catalytic reactions for melanosynthesis.
Conclusion: We have identified five different TYR mutations, including one novel mutation, which caused oculocutaneous albinism type 1 in Chinese. Further analysis of the patients will be useful to determine the effects of these mutations on the tyrosinase activities.</description><identifier>ISSN: 1442-6404</identifier><identifier>EISSN: 1442-9071</identifier><identifier>DOI: 10.1111/j.1442-9071.2009.02220.x</identifier><identifier>PMID: 20447099</identifier><language>eng</language><publisher>Melbourne, Australia: Blackwell Publishing Asia</publisher><subject>Adult ; Aged ; Albinism, Oculocutaneous - genetics ; Asian Continental Ancestry Group - genetics ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Monophenol Monooxygenase - genetics ; Mutation ; oculocutaneous albinism type 1 ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; TYR mutation</subject><ispartof>Clinical & experimental ophthalmology, 2010-01, Vol.38 (1), p.37-42</ispartof><rights>2010 The Authors. Journal compilation © 2010 Royal Australian and New Zealand College of Ophthalmologists</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4060-c0f7bf309e44bdf7c35ff832b04a3e00189d3a43598003541bcd28197965bc133</citedby><cites>FETCH-LOGICAL-c4060-c0f7bf309e44bdf7c35ff832b04a3e00189d3a43598003541bcd28197965bc133</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1442-9071.2009.02220.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1442-9071.2009.02220.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20447099$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Liu, Jing</creatorcontrib><creatorcontrib>Choy, Kwong-Wai</creatorcontrib><creatorcontrib>Chan, Leo WL</creatorcontrib><creatorcontrib>Leung, Tak-Yeung</creatorcontrib><creatorcontrib>Tam, Pancy OS</creatorcontrib><creatorcontrib>Chiang, Sylvia WY</creatorcontrib><creatorcontrib>Lam, Dennis SC</creatorcontrib><creatorcontrib>Pang, Chi-Pui</creatorcontrib><creatorcontrib>Lai, Timothy YY</creatorcontrib><title>Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1</title><title>Clinical & experimental ophthalmology</title><addtitle>Clin Exp Ophthalmol</addtitle><description>Background: To identify the sequence variants of the tyrosinase (TYR) gene in Chinese families with oculocutaneous albinism.
Methods: Three families with oculocutaneous albinism type 1 and 95 unrelated healthy Chinese individuals with normal pigmentation were screened for mutations in the TYR gene by direct sequencing. Computational algorithms were used to characterize the biological significance of the mutants.
Results: Four previously reported mutations (R299C, R299H, W400L and frame‐shift c.930insC) and one novel mutation (F214del) were identified, and probands had homozygous or compound heterozygous TYR mutant alleles. None of the mutants were identified among the 95 normal control subjects. Computational analysis predicted that the R299C mutant inactivates the tyrosinase enzyme by misfolding of protein tertiary structure and/or retention of the misfolded tyrosinase within the endoplasmic reticulum, and F214del causes dysfunction of tyrosine enzyme by affecting the copper binding sites and altering substrate orientation and electronic transfers during catalytic reactions for melanosynthesis.
Conclusion: We have identified five different TYR mutations, including one novel mutation, which caused oculocutaneous albinism type 1 in Chinese. Further analysis of the patients will be useful to determine the effects of these mutations on the tyrosinase activities.</description><subject>Adult</subject><subject>Aged</subject><subject>Albinism, Oculocutaneous - genetics</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Monophenol Monooxygenase - genetics</subject><subject>Mutation</subject><subject>oculocutaneous albinism type 1</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><subject>TYR mutation</subject><issn>1442-6404</issn><issn>1442-9071</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkMlOwzAURS0Eoky_gLwDFgnPQwYvWKCqFKQCEhRVsLGc1AGXDCVORPv3OKR0jSXLT_Y9z_ZBCBPwiRuXC59wTj0BEfEpgPCBUgr-agcdbA92N3XIgQ_QobULAAgoC_fRgALnEQhxgGbTdV1ZUyqr8bsuNT6fvj5d4KJtVGOq0mJT4uGHKbU7X7otXTYWf5vmA1dpm7vZqFJXrcUqT0xpbIGb9VJjcoz2MpVbfbJZj9DLzWg6vPUmj-O74fXESzmE4KWQRUnGQGjOk3kWpSzIspjRBLhiGoDEYs4UZ4GIAVjASZLOaUxEJMIgSQljR-is77usq69W20YWxqY6z_tnyYh1bMiIS8Z9MnUftrXO5LI2harXkoDsrMqF7ITJTp7srMpfq3Ll0NPNJW1S6PkW_NPoAld94Nvkev3vxnI4euwqx3s9b2yjV1te1Z8yjFgUyNnDWN4_zR6IeH6TM_YDqNeUTg</recordid><startdate>201001</startdate><enddate>201001</enddate><creator>Liu, Jing</creator><creator>Choy, Kwong-Wai</creator><creator>Chan, Leo WL</creator><creator>Leung, Tak-Yeung</creator><creator>Tam, Pancy OS</creator><creator>Chiang, Sylvia WY</creator><creator>Lam, Dennis SC</creator><creator>Pang, Chi-Pui</creator><creator>Lai, Timothy YY</creator><general>Blackwell Publishing Asia</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>201001</creationdate><title>Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1</title><author>Liu, Jing ; Choy, Kwong-Wai ; Chan, Leo WL ; Leung, Tak-Yeung ; Tam, Pancy OS ; Chiang, Sylvia WY ; Lam, Dennis SC ; Pang, Chi-Pui ; Lai, Timothy YY</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4060-c0f7bf309e44bdf7c35ff832b04a3e00189d3a43598003541bcd28197965bc133</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Albinism, Oculocutaneous - genetics</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Monophenol Monooxygenase - genetics</topic><topic>Mutation</topic><topic>oculocutaneous albinism type 1</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Polymerase Chain Reaction</topic><topic>TYR mutation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Liu, Jing</creatorcontrib><creatorcontrib>Choy, Kwong-Wai</creatorcontrib><creatorcontrib>Chan, Leo WL</creatorcontrib><creatorcontrib>Leung, Tak-Yeung</creatorcontrib><creatorcontrib>Tam, Pancy OS</creatorcontrib><creatorcontrib>Chiang, Sylvia WY</creatorcontrib><creatorcontrib>Lam, Dennis SC</creatorcontrib><creatorcontrib>Pang, Chi-Pui</creatorcontrib><creatorcontrib>Lai, Timothy YY</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical & experimental ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Liu, Jing</au><au>Choy, Kwong-Wai</au><au>Chan, Leo WL</au><au>Leung, Tak-Yeung</au><au>Tam, Pancy OS</au><au>Chiang, Sylvia WY</au><au>Lam, Dennis SC</au><au>Pang, Chi-Pui</au><au>Lai, Timothy YY</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1</atitle><jtitle>Clinical & experimental ophthalmology</jtitle><addtitle>Clin Exp Ophthalmol</addtitle><date>2010-01</date><risdate>2010</risdate><volume>38</volume><issue>1</issue><spage>37</spage><epage>42</epage><pages>37-42</pages><issn>1442-6404</issn><eissn>1442-9071</eissn><abstract>Background: To identify the sequence variants of the tyrosinase (TYR) gene in Chinese families with oculocutaneous albinism.
Methods: Three families with oculocutaneous albinism type 1 and 95 unrelated healthy Chinese individuals with normal pigmentation were screened for mutations in the TYR gene by direct sequencing. Computational algorithms were used to characterize the biological significance of the mutants.
Results: Four previously reported mutations (R299C, R299H, W400L and frame‐shift c.930insC) and one novel mutation (F214del) were identified, and probands had homozygous or compound heterozygous TYR mutant alleles. None of the mutants were identified among the 95 normal control subjects. Computational analysis predicted that the R299C mutant inactivates the tyrosinase enzyme by misfolding of protein tertiary structure and/or retention of the misfolded tyrosinase within the endoplasmic reticulum, and F214del causes dysfunction of tyrosine enzyme by affecting the copper binding sites and altering substrate orientation and electronic transfers during catalytic reactions for melanosynthesis.
Conclusion: We have identified five different TYR mutations, including one novel mutation, which caused oculocutaneous albinism type 1 in Chinese. Further analysis of the patients will be useful to determine the effects of these mutations on the tyrosinase activities.</abstract><cop>Melbourne, Australia</cop><pub>Blackwell Publishing Asia</pub><pmid>20447099</pmid><doi>10.1111/j.1442-9071.2009.02220.x</doi><tpages>6</tpages></addata></record> |
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subjects | Adult Aged Albinism, Oculocutaneous - genetics Asian Continental Ancestry Group - genetics Child Child, Preschool DNA Mutational Analysis Female Genotype Humans Male Middle Aged Monophenol Monooxygenase - genetics Mutation oculocutaneous albinism type 1 Pedigree Phenotype Polymerase Chain Reaction TYR mutation |
title | Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1 |
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