DOCSLIB.ORG

Arielle Yablonovitch and Ye Henry Li Most People in the World Have Brown Eyes, Except in Europe

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Arielle Yablonovitch and Ye Henry Li Most People in the World Have Brown Eyes, Except in Europe Eye Color Arielle Yablonovitch and Ye Henry Li Most People in the World Have Brown Eyes, Except in Europe Wikipedia, 2012 Non-Brown Color Eyes Occur Infrequently in Populations Outside of Europe Western Asia, especially Afghanistan, Lebanon, Iran, Iraq, Syria, and Jordan. Wikipedia, 2012 The Internet, 2012 !"#$%&'&($)*$+&,$-$.)/0'#$1(-), 2',3&453$5#6#,)7*$,#8,9&&:*$&;,#6$5)<#$#"#$7&'&($-*$-6$#8-/0'#$&;$-$*)/0'#$=#6>#')-6 ,(-),?$,3#(#$-(#$-7,4-''"$/-6"$>);;#(#6,$<-()-6,*$,3-,$7&6,()94,#$,&$),@$ .+A#>)- -'&6#$')*,*$BC$.+A*$,3-,$-(#$-**&7)-,#>$D),3$#"#$7&'&(E !"#$%&'($)*+,$-.%$'%/0-%&'1')2%%!"-)-%3'-.%*$% &'4-%5)'42 • /0-%6'1')%*.%7,-%$'%!"#$%&%8%#%9*:4-($%9)'7,6-7%+0%6-11.%*(%0',)%*)*.;%%<-1#(*(%#1.'% 6'($)*+,$-.%$'%.=*(%#(7%"#*)%6'1'); • '()*+&%$+" ,'-./8%'()*+&%$+"0)"#$1"234)*1"&%353,'-.65/8#(7%7*4$89)*!" '$:1*!")$+" ,7;'/3#)-%-(>04-.%*(?'1?-7%*(%9*:4-($%9)'7,6$*'(%*(%'):#(-11-.%% 6#11-7%!"#$%*+*!"+ ;% • @"-)-%#)-%$A'%$09-.%'B%4-1#(*(C D<:!"#$%&% E+1#6=*."%+)'A( D69"*!"#$%&% E)-77*."%0-11'A F$,)4%!"#$%8%%GHHI !"#$%&'($)*+,$-.%$'%/0-%&'1')2%%!"-)-%3'-.%*$% &'4-%5)'42 •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and HERC2 are Major Genes in Eye Color Determination OCA2 HERC2 OCA2 and HERC2 interact to modulate production of pigments UCSC Genome Browser, May 2012 OCA2 SNPs Associated with Eye Color SNPs Gene Allele (major, minor) Paper rs2594935 OCA2 AG Kayser et al., 2008 rs728405 OCA2 AC Kayser et al., 2008 rs6497268 OCA2 AC Duffy 2007 rs11855019 OCA2 AG Duffy 2007 rs1800407 OCA2 CT Sturm et al., 2008 rs3794604 OCA2 CT Kayser et al., 2008 rs1800401 OCA2 GC Rebbeck 2002 rs4778232 OCA2 CT Kayser et al., 2008 rs1448485 OCA2 GT Kayser et al., 2008 rs8024968 OCA2 CT Kayser et al., 2008 rs1597196 OCA2 GT Kayser et al., 2008 rs7179994 OCA2 AG Kayser et al., 2008 rs4778138 OCA2 AG Kayser et al., 2008;Duffy et al., 2007 rs4778241 OCA2 AC Kayser et al., 2008;Eiberg et al., 2008;Duffy et al., 2007 rs7495174 OCA2 AG Kayser et al., 2008;Sulem et al., 2008;Sulem et al., 2007;Duffy et al., 2007 OCA2 Controls Pigmentation Production • Polymorphisms in OCA2 account for Predicted Structure 74% of the variation in human eye color in Europeans. • OCA2 codes for an integral membrane protein called P protein, thought to transport of tyrosine, a precursor of melanin. Duffy et al., 2007 ModBase, 2010 OCA2 Controls Pigmentation Production • Highest association SNPs are located in first intron: Predicted Structure • rs7495174 (AG). p-val = 1.02x10^-61 • Favors blue/green • rs6497268 (AC). p-val = 1.57x10^-96 • Favors blue • rs11855019 (AG). p-val = 4.45 x 10^-54 • Favors blue • Coding region changes also contribute • rs1800401: Arg305Trp. (CT). p-val < 0.001 • Favors brown Rebbeck et al., 2002 • rs1800407: Arg419Gln (AG). p-val < 0.001 Duffy et al., 2007 • Favors Green/Hazel ModBase, 2010 HERC2 SNPs Associated with Eye Color SNPs Gene Allele (major, minor) Paper rs1129038 HERC2 CT Sturm et al., 2008;Eiberg et al., 2008 rs12593929 HERC2 AG Eiberg et al., 2008 rs12913832 HERC2 AG Han et al., 2008;Sturm et al., 2008;Eiberg et al., 2008 rs7183877 HERC2 AC Kayser et al., 2008 rs3935591 HERC2 CT Eiberg et al., 2008 rs7170852 HERC2 AT Eiberg et al., 2008 rs8028689 HERC2 CT Kayser et al., 2008 rs8041209 HERC2 GT Kayser et al., 2008 rs2240203 HERC2 CT Eiberg et al., 2008 rs2240202 HERC2 AG Kayser et al., 2008 rs916977 HERC2 CT Kayser et al., 2008;Sturm et al., 2008;Eiberg et al., 2008 rs16950979 HERC2 AG Kayser et al., 2008 rs2346050 HERC2 CT Kayser et al., 2008 rs16950987 HERC2 AG Kayser et al., 2008 rs1667394 HERC2 CT Kayser et al., 2008;Sulem et al., 2008;Sturm et al., 2008;Sulem et al., 2007 rs12592730 HERC2 AG Kayser et al., 2008 rs1635168 HERC2 AC Kayser et al., 2008 !"#$%#&'&$ !"#$%#&'()*+$%+#,-.#!%#/0123#4)*# 056#2)7)*#86+6*'!%$+!)% • &%#!%+*)%#9:#)4#+;6#/0123< • =;!"#)%6#,-.#!"#+;6#')"+#"!>%!4!?$%+#@6+6*'!%$%+#)4#A;6+;6*#5)B#;$C6#D*)A%#)*# %)%ED*)A%#656"<# EFFG##H)"+#7!I675#D*)A%#656" EFJG#H)"+#7!I675#D*)A%#656" EJJG##H)"+#7!I675#%)%ED*)A%#656" 0!D6*> !"#$%#3KK9 3L$%@H6#A6D"!+6 !"#$%#&'&$ !"#$%#&'()*+$%+#,-.#!%#/0123#4)*# 056#2)7)*#86+6*'!%$+!)% • 9)#:6++6*#;6+6*'!%6#+<6#,-."#$%;#<$(7)+5(6"#$"")=!$+6;#>!+<#:7?6#656#=)7)*@# 0!:6*A 6+#$7#(6*4)*'6;#7!%B$A6#$%$75"!"#!%#$#7$*A6#;$%!"< 4$'!75C## • 9<65#4)?%;#$#"!%A76#<$(7)+5(6#!%#+<6#DE#*6A!)%#)4#/6*=3#+<$+#!"#"+*)%A75#$"")=!$+6;# >!+<#:7?6#656"F#!%#+<$+#<$(7)+5(6@#!"##$%(&' $%;#!"#$%#&'&$)<$;#(6*46=+# $"")=$+!)%"C • GHH#:7?6I656;#!%;!J!;?$7"#4*)'#86%'$*B@#$"#>677#$"#H#$%;#3#:7?6I656;#!%;!J!;?$7"# 4*)'#9?*B65#$%;#K)*;$%#*6"(6=+!J675#<$;#+<!"#<$(7)+5(6@#"?AA6"+!%A#$#=)'')%# *+,-./!)0,1213+-)!%#+<6"6#(6)(76C## 0!:6*A !"#$%#3LLM !"#$%#&'&$(!"#$!%&'(#) *+,-.&/#0,1)1!+- • 23!"#4,1)1!+-#4+"1#'!%&'(#)/+"&#5#6 78988#(&)/"#):+ !-#13&#;+/13<&"1#=)/1#+>#13&#?')@%#A&)#/&:!+-9#<3&/&#)#')/:& ):/!@,'1,/&#4!:/)1!+-#1+#;+/13&/-#B,/+=&#<)"#1)%!-: =')@&C • D&')1!E&'(#3!:3#>/&F,&-@(#!-#B,/+=&)-"#1+.)(#",::&"1"# 13&#4,1)1!+-#<)"#"&'&@1&.#>+/#6 G,1#<3(H IJ&/1)!-#&(&#.!"&)"&"9#",@3#)"#&(&#@)-@&/#)-.#):&I/&')1&.#4)@,')/# .&:&-&/)1!+-9#+@@,/#4+/&#>/&F,&-1'(#!-#G',&#&(&"C##23&#!-@/&)"&.#&,4&')-!- !-# .)/%&/#&(&"#4)(#3&'=#=/+1&@1#):)!-"1#13&"&#.!"&)"&"#KL,"1#'!%&#4&')-!-#!-#13&#"%!-# 3&'="#=/+1&@1#!1#>/+4#MN#",-#.)4):&OC ID)/&/#P#4+/&#.&"!/)G'&H##K*/&F,&-@(I.&=&-.&-1#"&'&@1!+-O B!G&/: !"#$%#Q88R !"#$%#&'&$ !"#$%&'()*+,"-.&/012 • 3+)"-"/'+4&4")+56011") "'+&%7+8"/(2"+!"1"&)-.7+9:;9<+="2(/1')&'"=+)1;9>;?@?9A1+ )(%"+&1+&/+"/.&/-")+)"#$%&'0/#+BC39+')&/1-)04'0(/D++E."+FEG+&%%"%"+5&11(-0&'"=+H0'.+ I)(H/+"*"1<+1.(H1+0/-)"&1"=+I0/=0/#+(J+')&/1-)04'0(/+J&-'()1 &/=+0/-)"&1"=+ -.)(2&'0/+%((4+J()2&'0(/+H0'.+'."+BC39+4)(2('")+-(24&)"=+'(+'."+FCG+&%%"%"7+ %"&=0/#+'(+0/-)"&1"=+"K4)"110(/+(J+BC39D++ ,PEN MONP LMEN Other SNPs Associated with Eye Color SNPs Gene Allele (major, minor) Paper rs6058017 ASIP AG Kanetsky et al., 2002;Frudakis et al., 2003 rs4911442 NCOA6 AG Liu 2010 rs10235789 SEMA3A CT Larsson et al., 2011 rs3739070 TRAF3IP1 AC Larsson et al., 2011 rs12896399 on Chr14 GT Eriksson et al., 2010 rs4900109 on Chr14 GT Larsson et al., 2011 rs16891982 SLC45A2 (MATP) CG Han et al., 2008 rs26722 SLC45A2 (MATP) CT Han et al., 2008 rs12203592 IRF4 CT Han et al., 2008 rs1408799 TYRP1 CT Sulem et al., 2008 rs683 TYRP1 AC Frudakis et al., 2003 rs1393350 TYR AG Sulem et al., 2007 rs12896399 SLC24A4 GT Sulem et al., 2008;Han et al., 2008;Sulem et al., 2007 Advanced Topic: Iris Color Pattern Trait Heritability Crypt Frequency 84% Furrows 87% Pigmented Ring 93% Nevi 71% Larsson et al., 2003 Larsson et al., 2011 Iris Color Pattern: Crypt Frequency • rs10235789 (7q21.11) with p-value 2.7e-6 • located in intro 6 of SEMA3A • SEMA3A inhibits migration of neural crest cells that develops into the pupillary membrane, the precursor of anterior border layer and stroma in the iris, where the crypt occurs. Larsson et al., 2011 Iris Color Pattern: Furrow • rs3739070 (2q37.3) with p-value 6.2e-8 • located in coding region of TRAF3IP1 • TRAF3IP1 implicated in neurogenesis, neural migration and synaptogenesis, and may contribute to thickness and density of iris. Larsson et al., 2011 Iris Color Pattern: Pigmentation Ring • rs4900109 (14q32.12) with p-value 2.90e-13 • located in intergenic region upstream of SLC24A4. • SLC24A4 is a pigmentation gene. Larsson et al., 2011 Iris Color Pattern: Nevi • rs11630290 (15q22.31). No validation. • located in HERC1. • HERC1 is distinct from HERC2. Very little known is about HERC1, except it is speculated to be involved in membrane transport processes. Larsson et al., 2011 Eye Color is a Complex Trait • We are just starting to understand eye color determination. • More genes involved in color determination are being discovered. • Eye color is tied to hair and skin color. • The genes involved in eye color determination are important for eye and brain development. • GWAS helps elucidate the important SNPs and genes involved, and paves the way for future molecular and developmental biology studies..
Load more

Recommended publications
  • Consequences of Eye Color, Positioning, and Head Movement for Eye-Tracking Data Quality in Infant Research
    THE OFFICIAL JOURNAL OF THE INTERNATIONAL CONGRESS OF INFANT STUDIES Infancy, 20(6), 601–633, 2015 Copyright © International Congress of Infant Studies (ICIS) ISSN: 1525-0008 print / 1532-7078 online DOI: 10.1111/infa.12093 Consequences of Eye Color, Positioning, and Head Movement for Eye-Tracking Data Quality in Infant Research Roy S. Hessels Department of Experimental Psychology, Helmholtz Institute, Utrecht University and Department of Developmental Psychology, Utrecht University Richard Andersson Eye Information Group, IT University of Copenhagen and Department of Philosophy & Cognitive Science Lund University Ignace T. C. Hooge Department of Experimental Psychology, Helmholtz Institute Utrecht University Marcus Nystrom€ Humanities Laboratory Lund University Chantal Kemner Department of Experimental Psychology, Helmholtz Institute, Utrecht University and Department of Developmental Psychology, Utrecht University and Brain Center Rudolf Magnus University Medical Centre Utrecht Correspondence should be sent to Roy S. Hessels, Heidelberglaan 1, 3584 CS Utrecht, The Netherlands. E-mail: [email protected] 602 HESSELS ET AL. Eye tracking has become a valuable tool for investigating infant looking behavior over the last decades. However, where eye-tracking methodology and achieving high data quality have received a much attention for adult participants, it is unclear how these results generalize to infant research. This is particularly important as infants behave different from adults in front of the eye tracker. In this study, we investigated whether eye physiology, posi- tioning, and infant behavior affect measures of eye-tracking data quality: accuracy, precision, and data loss. We report that accuracy and precision are lower, and more data loss occurs for infants with bluish eye color com- pared to infants with brownish eye color.
    [Show full text]
  • Oculocutaneous Albinism, a Family Matter Summer Moon, DO,* Katherine Braunlich, DO,** Howard Lipkin, DO,*** Annette Lacasse, DO***
    Oculocutaneous Albinism, A Family Matter Summer Moon, DO,* Katherine Braunlich, DO,** Howard Lipkin, DO,*** Annette LaCasse, DO*** *Dermatology Resident, 3rd year, Botsford Hospital Dermatology Residency Program, Farmington Hills, MI **Traditional Rotating Intern, Largo Medical Center, Largo, FL ***Program Director, Botsford Hospital Dermatology Residency Program, Farmington Hills, MI Disclosures: None Correspondence: Katherine Braunlich, DO; [email protected] Abstract Oculocutaneous albinism (OCA) is a group of autosomal-recessive conditions characterized by mutations in melanin biosynthesis with resultant absence or reduction of melanin in the melanocytes. Herein, we present a rare case of two Caucasian sisters diagnosed with oculocutaneous albinism type 1 (OCA1). On physical exam, the sisters had nominal cutaneous evidence of OCA. This case highlights the difficulty of diagnosing oculocutaneous albinism in Caucasians. Additionally, we emphasize the uncommon underlying genetic mutations observed in individuals with oculocutaneous albinism. 2,5 Introduction people has one of the four types of albinism. of exon 4. Additionally, patient A was found to Oculocutaneous albinism (OCA) is a group of We present a rare case of sisters diagnosed with possess the c.21delC frameshift mutation in the autosomal-recessive conditions characterized by oculocutaneous albinism type 1, emphasizing the C10orf11 gene. Patient B was found to possess the mutations in melanin biosynthesis with resultant uncommon genetic mutations we observed in these same heterozygous mutation and deletion in the two individuals. absence or reduction of melanin in the melanocytes. Figure 1 Melanin-poor, pigment-poor melanocytes phenotypically present as hypopigmentation of the Case Report 1,2 Two Caucasian sisters were referred to our hair, skin, and eyes. dermatology clinic after receiving a diagnosis of There are four genes responsible for the four principal oculocutaneous albinism type 1.
    [Show full text]
  • DNA Phenotyping and Kinship Determination
    DNA Phenotyping and Kinship Determination Ellen McRae Greytak, PhD Director of Bioinformatics Parabon NanoLabs, Inc. ©©2 2015015 ParabonParabon NanoLabs,NanoLabs Inc.Inc All rightsrights reserved. reserved Forensic Applications of DNA Phenotyping Predict a person’s ancestry and/or appearance (“phenotype”) from his or her DNA Generate investigative leads when DNA doesn’t match a database (e.g., CODIS) Gain additional information (e.g., pigmentation, detailed ancestry) about unidentified remains Main value is in excluding non-matching individuals to help narrow a suspect list Without information on age, weight, lifestyle, etc., phenotyping currently is not targeted toward individual identification Snapshot Workflow Workflow of a Parabon® Snapshot™ Investigation Unidentified Remains DNA Evidence Is Collected and Sent to Crime Lab DNA Evidence DNA Crime Lab CCrime Lab Extracts DNA And Produces STR Profile Checked STR Profile (a.k.a. “DNA Fingerprint”) AAgainst DNA Database(s) Yes Match No Found? SnapshotS Composite Ordered Extracted DNA ™ D N A PH E N O T Y P I N G DNA Service Labs Unidentified DNA Is Genotype Data Is Genotyping Lab Produces SNP Sent To Service Lab Sent To Parabon Profile (a.k.a. “DNA Blueprint”) (DNA Extracted If Needed) 50pg – 2ng DNA Evidence — or — Extracted DNA NOTE: STR Profiles Do Not Contain Sufficient Genetic Information to Produce A SNP Genotype Parabon NanoLabs PParabonb AnalyzesAl PParabon Predicts Physical Traits Investigator Uses Genotype Data and Produces Snapshot Report
    [Show full text]
  • Eye Color and Autism: a Preliminary Study and Implications for Diagnosis and Treatment Kevin Callahan, Ph.D., BCSE Phoenix Ma, Ed.D
    5th Annual Adventures in Autism Intervention and Research Conference Eye Color and Autism: A Preliminary Study and Implications for Diagnosis and Treatment Kevin Callahan, Ph.D., BCSE Phoenix Ma, Ed.D. Heather O’Shea, Ph.D.; BCBA-D Lindsey R. Eason, M.Ed., Doctoral Candidate University of North Texas Business Leadership Building July 27th, 2013 Presentation Objectives 1. Present previous hypotheses and research findings related to eye pigmentation and human behavior and genetic/medical conditions 2. Summarize the results of research conducted at UNT investigating eye color and autism 3. Discuss the implications of future eye color research for the diagnosis and treatment of individuals with Autism Spectrum Disorder (ASD) Why Eye Color and Autism? “…significant progress has been made in our clinical and neurobiologic understanding of this disorder. Despite these advances,…we still have much to learn. The etiology of autism remains largely unknown, and there are still no metabolic, genetic, or radiographic markers to aid in the diagnosis and to develop more focused and effective treatment. Investigators…[must] consider a broad range of novel research questions [to] expand and extend what is known…” Bauman and Kemper, 2005 Eye Color and Genetic Conditions • “Eye color is significant to the phenotype of multiple genetic disorders, including: – Waardenburg Syndrome, – Angelman Syndrome, – Prader-Willi Syndrome” (Ferretti et al., 2009) – Albinism • The gene for eye color, Herc2, is located on Chromosome 15, an area of interest for ASD Eye Color
    [Show full text]
  • The Genetics of Human Skin and Hair Pigmentation
    GG20CH03_Pavan ARjats.cls July 31, 2019 17:4 Annual Review of Genomics and Human Genetics The Genetics of Human Skin and Hair Pigmentation William J. Pavan1 and Richard A. Sturm2 1Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA; email: [email protected] 2Dermatology Research Centre, The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, Queensland 4102, Australia; email: [email protected] Annu. Rev. Genom. Hum. Genet. 2019. 20:41–72 Keywords First published as a Review in Advance on melanocyte, melanogenesis, melanin pigmentation, skin color, hair color, May 17, 2019 genome-wide association study, GWAS The Annual Review of Genomics and Human Genetics is online at genom.annualreviews.org Abstract https://doi.org/10.1146/annurev-genom-083118- Human skin and hair color are visible traits that can vary dramatically Access provided by University of Washington on 09/02/19. For personal use only. 015230 within and across ethnic populations. The genetic makeup of these traits— Annu. Rev. Genom. Hum. Genet. 2019.20:41-72. Downloaded from www.annualreviews.org Copyright © 2019 by Annual Reviews. including polymorphisms in the enzymes and signaling proteins involved in All rights reserved melanogenesis, and the vital role of ion transport mechanisms operating dur- ing the maturation and distribution of the melanosome—has provided new insights into the regulation of pigmentation. A large number of novel loci involved in the process have been recently discovered through four large- scale genome-wide association studies in Europeans, two large genetic stud- ies of skin color in Africans, one study in Latin Americans, and functional testing in animal models.
    [Show full text]
  • Eye Color Predicts Disagreeableness in North Europeans: Support in Favor of Frost (2006)
    Eye color predicts disagreeableness in North Europeans: support in favor of Frost (2006) Author Gardiner, Elliroma, Jackson, Chris J Published 2010 Journal Title Current Psychology DOI https://doi.org/10.1007/s12144-009-9070-1 Copyright Statement © 2010 Springer US. This is an electronic version of an article published in Current Psychology, Vol. 29(1), 2010, pp. 1-9. Current Psychology is available online at: http://link.springer.com/ with the open URL of your article. Downloaded from http://hdl.handle.net/10072/57090 Griffith Research Online https://research-repository.griffith.edu.au Eye color predicts disagreeableness in North Europeans: Support in favor of Frost (2006) Keywords: Eye color, personality, melanin, competitiveness, Agreeableness. Word count: 3027 Abstract The current study investigates whether eye color provides a marker of Agreeableness in North Europeans. Extrapolating from Frost’s (2006) research uncovering an unusually diverse range of hair and eye colour in northern Europe, we tested the hypothesis that light eyed individuals of North European descent would be less agreeable (a personality marker for competitiveness) when compared to their dark eyed counterparts, whereas there would be no such effect for people of European descent in general. The hypothesis was tested in Australia to provide consistent environmental conditions for both groups of people. Results support the hypothesis. Implications and conclusions are discussed. -2- Eye color predicts disagreeableness in North Europeans: Support in favor of Frost (2006) Since the influential book on eye color by Morgan Worthy (1974), a small number of researchers have been interested in whether eye color provides an indication of personality and associated behavior.
    [Show full text]
  • Parabon® Snapshot™ Phenotype Report #OPD-FL-2001-380051-Snapshot
    Parabon® Snapshot™ Phenotype Report #OPD-FL-2001-380051-Snapshot Agency: ORLANDO POLICE DEPARTMENT Agency Case #: 2001-380051 Evidence ID #: EN3828A Subject DNA Vial #: 15-08830.02 Report Preparation Date: 11 NOV 2015 PNL Document #15K11P55‐5BE8XMUM9E © 2015 Parabon NanoLabs, Inc. All rights reserved. Snapshot Prediction Results Introduction #OPD-FL-2001-380051-Snapshot PNL Document #15K11P55‐5BE8XMUM9E For additional information about the contents of this report, please refer to the Parabon Snapshot Phenotype Report Guide. Table of Contents Prediction Results: Skin Color . 1 Prediction Results: Eye Color . 2 Prediction Results: Hair Color . 3 Prediction Results: Freckling . 4 Genomic Ancestry Results . 5-6 Face Morphology Results . 7 Composite Profile . 8 Disclaimer . 9-10 Sample Description and Genotyping Results 7.56 ng of DNA extracted from a swab with suspected semen was sent to AKESOgen for genotyping on the Illumina CytoSNP-850k chip. The overall genotyping call rate was 98.95% (842,350 SNPs), which indicates that the sample was most likely single-source. Analysis of the sex chromosomes showed the subject is male. i Snapshot Prediction Results Skin Color #OPD-FL-2001-380051-Snapshot PNL Document #15K11P55‐5BE8XMUM9E Background The subject is predicted to have skin color = 4.692. The skin color model is based on In the range of previously observed prediction values for skin color, 502 unrelated individuals from a this value falls at 98.0%. range of ethnic backgrounds. The categorical trait values are coded from lightest to darkest,
    [Show full text]
  • Human Pigmentation Variation: Evolution, Genetic Basis, and Implications for Public Health
    YEARBOOK OF PHYSICAL ANTHROPOLOGY 50:85–105 (2007) Human Pigmentation Variation: Evolution, Genetic Basis, and Implications for Public Health Esteban J. Parra* Department of Anthropology, University of Toronto at Mississauga, Mississauga, ON, Canada L5L 1C6 KEY WORDS pigmentation; evolutionary factors; genes; public health ABSTRACT Pigmentation, which is primarily deter- tic interpretations of human variation can be. It is erro- mined by the amount, the type, and the distribution of neous to extrapolate the patterns of variation observed melanin, shows a remarkable diversity in human popu- in superficial traits such as pigmentation to the rest of lations, and in this sense, it is an atypical trait. Numer- the genome. It is similarly misleading to suggest, based ous genetic studies have indicated that the average pro- on the ‘‘average’’ genomic picture, that variation among portion of genetic variation due to differences among human populations is irrelevant. The study of the genes major continental groups is just 10–15% of the total underlying human pigmentation diversity brings to the genetic variation. In contrast, skin pigmentation shows forefront the mosaic nature of human genetic variation: large differences among continental populations. The our genome is composed of a myriad of segments with reasons for this discrepancy can be traced back primarily different patterns of variation and evolutionary histories. to the strong influence of natural selection, which has 2) Pigmentation can be very useful to understand the shaped the distribution of pigmentation according to a genetic architecture of complex traits. The pigmentation latitudinal gradient. Research during the last 5 years of unexposed areas of the skin (constitutive pigmenta- has substantially increased our understanding of the tion) is relatively unaffected by environmental influences genes involved in normal pigmentation variation in during an individual’s lifetime when compared with human populations.
    [Show full text]
  • Oculocutaneous Albinism Type 2 (OCA2) with Homozygous 2.7-Kb Deletion of the P Gene and Sickle Cell Disease in a Cameroonian Family
    J Hum Genet (2007) 52:771–780 DOI 10.1007/s10038-007-0181-y ORIGINAL ARTICLE Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene Robert Aquaron Æ Nadem Soufir Æ Jean-Louis Berge´-Lefranc Æ Catherine Badens Æ Frederic Austerlitz Æ Bernard Grandchamp Received: 29 May 2007 / Accepted: 20 July 2007 / Published online: 1 September 2007 Ó The Japan Society of Human Genetics and Springer 2007 Abstract In this study, we report on a Cameroonian family frequencies of 0.66, 0.28 and 0.06, respectively) associated from the Ewondo ethnic group, presenting with three ocu- with the mutation in the 53 OCA2 patients, while 11 dif- locutaneous albinism type 2 (OCA2) patients homozygous ferent haplotypes were observed in the control group. These for the 2.7-kb deletion of the P gene. In one of these patients observations suggest that the mutation appeared on the rel- OCA2 was associated with sickle cell anaemia and in two atively frequent haplotype TAGCT, and that the two other with the sickle cell trait. We took this opportunity to deter- haplotypes are derived from two independent recombination mine single nucleotide polymorphism (SNP) haplotypes events. These haplotypic data, associated with a value of 1/ within the P gene in this family in comparison with a group 15,000 for the prevalence of the 2.7-kb mutation, a present of 53 OCA2 patients homozygous for the same mutation and effective population size of 10,000,000 for Cameroon and a with a matched unrelated full-coloured control group of 49 recombination rate of 0.0031, allowed us to estimate that this subjects, originating from seven different ethnic groups of mutation originated 4,100–5,645 years ago.
    [Show full text]
  • Inheritance of the Colour of Eyes in Humans and the Distribution of This Characteristic in a Given Population
    003679 – 0025 EXTENDED ESSAY BIOLOGY Inheritance of the colour of eyes in humans and the distribution of this characteristic in a given population. MAY 2015 WORD COUNT: 3 532 003679 – 0025 Abstract The aim of this investigation is to determine the distribution of the colour of eyes in a given population of students of VI Liceum Ogólnokształcące in Kielce (16-19 years old) and to examine how this characteristic is inherited. To achieve this goal, data including iris colour of 100 individuals and their closest relatives were collected. The colour of eyes of each individual was assessed in the same room with the same artificial light turned on. Information about eye colour of individuals' family was gained through investigated people. The stated hypothesis said that there would be the greatest percentage of brown-eyed people, smaller amount of blue-eyed ones and the smallest number of individuals with green iris. It was based on Mendel's idea of inheritance of 2 of 3 known genes responsible for colour of eyes – bey 2 and gey; the third gene, bey 1 could not be used as its way of action is not well-known yet. The results do not completely coincide with hypothesis. The obtained distribution shows that in the chosen population, percentage of people with brown and blue eyes is equal (37%) and number of green-eyed people is significantly smaller (23%). This inconsistency can be a result of the fact that Europe, especially the eastern part, is the region of the world with the greatest variety of colour of both eyes and hair.
    [Show full text]
  • Genetic Causes of Oculocutaneous Albinism in Pakistani Population
    G C A T T A C G G C A T genes Article Genetic Causes of Oculocutaneous Albinism in Pakistani Population Zureesha Sajid 1,2,† , Sairah Yousaf 1,†, Yar M. Waryah 3,4, Tauqeer A. Mughal 5, Tasleem Kausar 6, Mohsin Shahzad 1,‡, Ali R. Rao 3, Ansar A. Abbasi 5 , Rehan S. Shaikh 2 , Ali M. Waryah 3 , Saima Riazuddin 1,7 and Zubair M. Ahmed 1,7,* 1 Department of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA; [email protected] (Z.S.); [email protected] (S.Y.); [email protected] (M.S.); [email protected] (S.R.) 2 Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan 60000, Pakistan; [email protected] 3 Molecular Biology and Genetics Department, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan; [email protected] (Y.M.W.); [email protected] (A.R.R.); [email protected] (A.M.W.) 4 Department of Molecular Biology and Genetics, Shaheed Benazir Bhutto University, Shaheed Benazir Abad 67450, Pakistan 5 Department of Zoology, Mirpur University of Science and Technology, Mirpur, Azad Jammu and Kashmir 10250, Pakistan; [email protected] (T.A.M.); [email protected] (A.A.A.) 6 Department of Zoology, Government Sadiq College Women University, Bahawalpur 63100, Pakistan; [email protected] 7 Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD 21202, USA * Correspondence: [email protected] † Contributed equally. Citation: Sajid, Z.; Yousaf, S.; ‡ Present address: Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Waryah, Y.M.; Mughal, T.A.; Kausar, Islamabad 44080, Pakistan.
    [Show full text]
  • Association of Five Snps with Human Hair Colour in the Polish Population
    bioRxiv preprint doi: https://doi.org/10.1101/087429; this version posted November 12, 2016. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. Association of five SNPs with human hair colour in the Polish population A. Siewierska-Górskaa, A. Sitekb, E. Żądzińskab, G. Bartosza, D. Strapagielc* aDepartment of Molecular Biophysics, Faculty of Biology and Environmental Protection, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland bDepartment of Anthropology, Faculty of Biology and Environmental Protection, University of Lodz, Banacha 12/16, 90-237 Lodz, Poland cBiobank Lab, Department of Molecular Biophysics, Faculty of Biology and Environmental Protection, University of Lodz, Pilarskiego 14/16, 90-237 Lodz, Poland *Corresponding author: Dominik Strapagiel PhD, tel.: +48 42 6655702, fax: +48 42 6354070 e-mail: [email protected] Abbreviated title: Genetics of hair colour in Poles 1 bioRxiv preprint doi: https://doi.org/10.1101/087429; this version posted November 12, 2016. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. Abstract Twenty-two variants of the genes involved in hair pigmentation (OCA2, HERC2, MC1R, SLC24A5, SLC45A2, TPCN2, TYR, TYRP1) were genotyped in a group of 186 Polish subjects, representing a range of hair colours (45 red, 64 blond, 77 dark).
    [Show full text]