{"id":"https://openalex.org/W70630089","doi":null,"title":"Membrane associated transporter protein gene (SLC45A2) and the genetic basis of normal human pigmentation variation","display_name":"Membrane associated transporter protein gene (SLC45A2) and the genetic basis of normal human pigmentation variation","publication_year":2008,"publication_date":"2008-01-01","ids":{"openalex":"https://openalex.org/W70630089","mag":"70630089"},"language":"en","primary_location":{"id":"mag:70630089","doi":null,"is_oa":false,"landing_page_url":"https://eprints.qut.edu.au/25913/","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5046661056","display_name":"Justin Graf","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Justin Graf","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5046661056"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11144","display_name":"melanin and skin pigmentation","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11144","display_name":"melanin and skin pigmentation","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10751","display_name":"Forensic and Genetic Research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/slc45a2","display_name":"SLC45A2","score":0.9990000128746033},{"id":"https://openalex.org/keywords/melanin-synthesis","display_name":"melanogenesis","score":0.7770000100135803},{"id":"https://openalex.org/keywords/non-synonymous-polymorphisms","display_name":"non-synonymous polymorphisms","score":0.8949999809265137},{"id":"https://openalex.org/keywords/promoter-polymorphism","display_name":"promoter polymorphism","score":0.9350000023841858},{"id":"https://openalex.org/keywords/transcription-start-site","display_name":"transcription start sites","score":0.8640000224113464},{"id":"https://openalex.org/keywords/oculocutaneous-albinism","display_name":"oculocutaneous albinism","score":0.8379999995231628},{"id":"https://openalex.org/keywords/hair-color","display_name":"hair color","score":0.5540000200271606},{"id":"https://openalex.org/keywords/skin-colour","display_name":"skin colour","score":0.8370000123977661},{"id":"https://openalex.org/keywords/eye-color","display_name":"eye color","score":0.9950000047683716},{"id":"https://openalex.org/keywords/genetic-association","display_name":"genetic association","score":0.5270000100135803},{"id":"https://openalex.org/keywords/population-variation","display_name":"population variation","score":0.367000013589859},{"id":"https://openalex.org/keywords/caucasians","display_name":"Caucasians","score":0.4259999990463257},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.5580000281333923},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.5989999771118164}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7519114017486572},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.7372039556503296},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7100969552993774},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.6695885062217712},{"id":"https://openalex.org/C2775902910","wikidata":"https://www.wikidata.org/wiki/Q81867","display_name":"Albinism","level":2,"score":0.5535017251968384},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5256838798522949},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5037874579429626},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.5019419193267822},{"id":"https://openalex.org/C107538193","wikidata":"https://www.wikidata.org/wiki/Q187526","display_name":"Melanin","level":2,"score":0.44257649779319763},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.41971439123153687},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.39841994643211365},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.06853759288787842},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:70630089","doi":null,"is_oa":false,"landing_page_url":"https://eprints.qut.edu.au/25913/","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.7246000170707703,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1488989967","https://openalex.org/W1973153817","https://openalex.org/W1977589722","https://openalex.org/W1990829771","https://openalex.org/W1999294136","https://openalex.org/W2016114470","https://openalex.org/W2017276437","https://openalex.org/W2020662754","https://openalex.org/W2023560082","https://openalex.org/W2051067435","https://openalex.org/W2053011686","https://openalex.org/W2060723553","https://openalex.org/W2069389397","https://openalex.org/W2105516543","https://openalex.org/W2108175127","https://openalex.org/W2112814753","https://openalex.org/W2122496575","https://openalex.org/W2123617891","https://openalex.org/W2124650807","https://openalex.org/W2125842849","https://openalex.org/W2126638912","https://openalex.org/W2130504205","https://openalex.org/W2130981731","https://openalex.org/W2138807855","https://openalex.org/W2140166139","https://openalex.org/W2144985905","https://openalex.org/W2155069978","https://openalex.org/W2159527519"],"related_works":["https://openalex.org/W2058940017","https://openalex.org/W1976185560","https://openalex.org/W2130504205","https://openalex.org/W2020662754","https://openalex.org/W183420787","https://openalex.org/W2599052221","https://openalex.org/W2035304867","https://openalex.org/W1973153817","https://openalex.org/W2981281744","https://openalex.org/W4387079508"],"abstract_inverted_index":{"This":[0,161,225],"work":[1,688],"is":[2,53,75,99,412,694],"concerned":[3],"with":[4,36,86,214,237,317,337,350,375],"the":[5,14,19,63,66,93,106,111,115,133,166,176,206,227,264,294,342,361,380,436,447,459,466,486,495,503,538,546,558,563,572,579,603,610,632,676,683,690,705,724,758],"genetic":[6],"basis":[7],"of":[8,16,57,71,96,110,156,178,284,416,438,446,462,465,472,502,527,575,583,613,624,634,678,707,726,735,744,761],"normal":[9,87,127,238,654,699],"human":[10,140,239],"pigmentation":[11,88,128,141,150,241,261,439,625,635,655,680,700,716,762],"variation.":[12,262],"Specifically,":[13],"role":[15,117,134,259,596,713],"polymorphisms":[17,81,101,137,234,251,302,323,334,432,540,640,664],"within":[18,50,485,657],"solute":[20],"carrier":[21],"family":[22],"45":[23],"member":[24],"2":[25,608],"(SLC45A2":[26],"or":[27,108,552],"membrane":[28],"associated":[29,85,213,236,336,349],"transporter":[30],"protein;":[31],"MATP)":[32],"gene":[33,64],"were":[34,199,211,235,291,335,348,373,470,516,549,587],"investigated":[35],"respect":[37],"to":[38,77,131,230,252,435,457,562,568,606,631,653,668,698,710,723,751,757],"variation":[39,89,656,701],"in":[40,62,82,102,120,139,173,189,223,260,353,393,589,597,686,714,741],"hair,":[41,216],"skin":[42,221,338,352,745],"and":[43,49,60,122,153,187,205,208,219,269,293,325,345,363,383,409,419,423,475,490,506,524,530,585,599,675,702,732,748,755],"eye":[44],"colour":[45,222,339],"\u2015":[46],"both":[47,195],"between":[48,90,202,360,647],"populations.":[51,91],"SLC45A2":[52,83,103,136,233,249,388,417,430,448,576,584,639,673,693],"an":[54,566,695],"important":[55,116,696],"regulator":[56,415],"melanin":[58],"production":[59],"mutations":[61],"underly":[65],"most":[67],"recently":[68],"identified":[69,276,292,315],"form":[70],"oculocutaneous":[72,730],"albinism.":[73],"There":[74],"evidence":[76],"suggest":[78],"that":[79,100,135,232,331,341,379,397,410,429,537,638,692],"non-synonymous":[80,184],"are":[84],"Therefore,":[92],"underlying":[94],"hypothesis":[95],"this":[97,174,687],"thesis":[98,627],"will":[104],"alter":[105],"function":[107,720],"regulation":[109,437],"protein,":[112],"thereby":[113],"altering":[114,441],"it":[118,426],"plays":[119],"melanogenesis":[121],"providing":[123],"a":[124,143,258,402,413,511,621,658],"mechanism":[125],"for":[126,168,300,672,729],"variation.\r\n\r\nIn":[129],"order":[130],"investigate":[132],"play":[138],"variation,":[142],"DNA":[144],"database":[145,162],"was":[146,163,226,275,298,314,358,427,450,483,556,615],"established":[147],"which":[148,179,509],"collected":[149],"phenotypic":[151],"information":[152],"blood":[154],"samples":[155],"more":[157,569],"than":[158],"700":[159],"individuals.":[160],"used":[164],"as":[165,494],"foundation":[167],"two":[169,182],"association":[170,244,371],"studies":[171],"outlined":[172],"thesis,":[175],"first":[177,228,487],"involved":[180,246,548],"genotyping":[181,247],"previously-described":[183],"polymorphisms,":[185,196,366,578],"p.Glu272Lys":[186],"p.Phe374Leu,":[188],"four":[190],"different":[191,201,463,752],"population":[192,203,648],"groups.":[193],"For":[194],"allele":[197,644],"frequencies":[198],"significantly":[200,386],"groups":[204],"272Lys":[207],"374Leu":[209],"alleles":[210,347,385,400],"strongly":[212],"black":[215],"brown":[217],"eyes":[218],"olive":[220,351],"Caucasians.":[224,354],"report":[229],"show":[231,643],"intra-population":[240],"variation.\r\n\r\nThe":[242],"second":[243],"study":[245],"several":[248],"promoter":[250,273,296,362,431,449,477,481,491,539,577,663],"determine":[253,458],"if":[254],"they":[255],"also":[256,616,651,739],"played":[257],"Firstly,":[263],"transcription":[265,404,674],"start":[266],"site":[267],"(TSS),":[268],"hence":[270],"putative":[271,295],"proximal":[272],"region,":[274],"using":[277,303,453,518],"5'":[278],"RNA":[279],"ligase":[280],"mediated":[281],"rapid":[282],"amplification":[283],"cDNA":[285],"ends":[286],"(RLM-RACE).":[287],"Two":[288],"alternate":[289],"TSSs":[290],"region":[297,365],"screened":[299],"novel":[301,311],"denaturing":[304],"high":[305],"performance":[306],"liquid":[307],"chromatography":[308],"(dHPLC).":[309],"A":[310],"duplication":[312],"(c.\u20131176_\u20131174dupAAT)":[313],"along":[316],"other":[318,679,733],"previously":[319],"described":[320],"single":[321],"nucleotide":[322],"(c.\u20131721C>G":[324],"c.\u20131169G>A).":[326],"Strong":[327],"linkage":[328,356],"disequilibrium":[329,357],"ensured":[330],"all":[332],"three":[333],"such":[340],"\u20131721G,":[343,381,504],"+dup":[344,382,505],"\u20131169A":[346,384,507],"No":[355],"observed":[359,484],"coding":[364],"suggesting":[367],"independent":[368],"effects.":[369],"The":[370,499],"analyses":[372],"complemented":[374],"functional":[376,500,573,670],"data,":[377],"showing":[378,637],"decreased":[387],"transcriptional":[389,460],"activity.":[390],"Based":[391,593],"on":[392,594],"silico":[394],"bioinformatic":[395],"analysis":[396,526],"showed":[398],"these":[399],"remove":[401],"microphthalmia-associated":[403],"factor":[405],"(MITF)":[406],"binding":[407,443,514,561],"site,":[408,515],"MITF":[411,442,512,555,586],"known":[414],"(Baxter":[418],"Pavan,":[420],"2002;":[421],"Du":[422],"Fisher,":[424],"2002),":[425],"postulated":[428],"could":[433],"contribute":[434,652,756],"by":[440,636],"affinity.\r\n\r\nFurther":[444],"characterisation":[445],"carried":[451],"out":[452],"luciferase":[454],"reporter":[455],"assays":[456,522],"activity":[461,478,482,492],"regions":[464],"promoter.":[467],"Five":[468],"constructs":[469],"designed":[471],"increasing":[473],"length":[474],"their":[476],"evaluated.":[479],"Constitutive":[480],"~200":[488],"bp":[489],"increased":[493],"construct":[496],"size":[497],"increased.":[498],"impact":[501],"alleles,":[508],"removed":[510],"consensus":[513],"assessed":[517],"electrophoretic":[519],"mobility":[520],"shift":[521],"(EMSA)":[523],"expression":[525,581,612,623,677],"genotyped":[528],"melanoblast":[529],"melanocyte":[531],"cell":[532,591],"lines.":[533,592],"EMSA":[534],"results":[535,619],"confirmed":[536],"affected":[541],"DNA-protein":[542],"binding.":[543],"Interestingly,":[544],"however,":[545],"protein/s":[547],"not":[550,557,641],"MITF,":[551],"at":[553],"least":[554],"protein":[559],"directly":[560],"DNA.":[564],"In":[565,661],"effort":[567],"thoroughly":[570],"characterise":[571],"consequences":[574,671],"mRNA":[580,611],"levels":[582],"determined":[588],"melanocyte/melanoblast":[590],"SLC45A2\u2019s":[595,719],"processing":[598],"trafficking":[600],"TYRP1":[601,614],"from":[602],"trans-Golgi":[604],"network":[605],"stage":[607],"melanosmes,":[609],"investigated.":[617],"Expression":[618],"suggested":[620],"coordinated":[622],"genes.\r\n\r\nThis":[626],"has":[628],"substantially":[629],"contributed":[630],"field":[633],"only":[642],"frequency":[645],"differences":[646],"groups,":[649],"but":[650],"Caucasian":[659],"population.":[660],"addition,":[662],"have":[665,669],"been":[666],"shown":[667],"genes.":[681],"Combined,":[682],"data":[684],"presented":[685],"supports":[689],"notion":[691],"contributor":[697],"should":[703],"be":[704],"target":[706],"further":[708],"research":[709],"elucidate":[711],"its":[712],"determining":[715],"phenotypes.":[717],"Understanding":[718],"may":[721,738],"lead":[722],"development":[725],"therapeutic":[727],"interventions":[728],"albinism":[731],"disorders":[734],"pigmentation.":[736],"It":[737],"help":[740],"our":[742],"understanding":[743],"cancer":[746],"susceptibility":[747],"evolutionary":[749],"adaptation":[750],"UV":[753],"environments,":[754],"forensic":[759],"application":[760],"phenotype":[763],"prediction.":[764]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2016-06-24T00:00:00"}
