Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW et al.Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet 123:177-187
Department of Cellular and Molecular Medicine, Section IV Build. 24.4, Panum Institute, University of Copenhagen, Blegdamsvej 3b, 2200, Copenhagen, Denmark.Human Genetics (Impact Factor: 4.82). 04/2008; 123(2):177-87. DOI: 10.1007/s00439-007-0460-x
The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By association analyses, we identified two SNPs within this region that were perfectly associated with the blue and brown eye colors: rs12913832 and rs1129038. Of these, rs12913832 is located 21.152 bp upstream from the OCA2 promoter in a highly conserved sequence in intron 86 of HERC2. The brown eye color allele of rs12913832 is highly conserved throughout a number of species. As shown by a Luciferase assays in cell cultures, the element significantly reduces the activity of the OCA2 promoter and electrophoretic mobility shift assays demonstrate that the two alleles bind different subsets of nuclear extracts. One single haplotype, represented by six polymorphic SNPs covering half of the 3' end of the HERC2 gene, was found in 155 blue-eyed individuals from Denmark, and in 5 and 2 blue-eyed individuals from Turkey and Jordan, respectively. Hence, our data suggest a common founder mutation in an OCA2 inhibiting regulatory element as the cause of blue eye color in humans. In addition, an LOD score of Z = 4.21 between hair color and D14S72 was obtained in the large family, indicating that RABGGTA is a candidate gene for hair color.
Full-textDOI: · Available from: Jonas Mengel-From, Oct 04, 2015
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- "Genotypic profiling based on Single Nucleotide Polymorphisms (SNPs) has been successfully implemented to predict a person's amount of freckling, presence of moles, hair texture and skin color       . In forensic science genotyping has been used to predict an individual's eye color, hair color, sex and ancestry with high accuracy  . "
ABSTRACT: Research into the importance of the human genome in the context of facial appearance is receiving increasing attention and has led to the detection of several Single Nucleotide Polymorphisms (SNPs) of importance. In this work we attempt a holistic approach predicting facial characteristics from genetic principal components across a population of 1266 individuals. For this we perform a genome-wide association analysis to select a large number of SNPs linked to specific facial traits, recode these to genetic principal components and then use these principal components as predictors for facial traits in a linear regression. We show in this proof-of-concept study for facial trait prediction from genome-wide SNP data that some facial characteristics can be modeled by genetic information: facial width, eyebrow width, distance between eyes, and features involving mouth shape are predicted with statistical significance (p<0.03).Forensic Science International: Genetics 09/2015; 19:263-268. DOI:10.1016/j.fsigen.2015.08.004
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- "" red, " " blond, " " brown " ), particularly in large-scale GWAS studies (Sulem et al., 2007; Nan et al., 2009; Branicki et al., 2011; Walsh et al., 2013). As direct assessment of iris pigmentation using tristimulus colorimetry or narrow-band reflectometry is not possible, iris pigmentation has also been commonly described in descriptive terms (e.g., " blue, " " green, " brown " ) (Frudakis et al., 2003; Eiberg et al., 2008; Kayser et al., 2008; Sturm et al., 2008). However, recent efforts to quantitatively characterize iris pigmentation (e.g. using CIELab values) from high-resolution photographs (Liu et al., 2010; Walsh et al., 2011a; Edwards et al., 2012; Walsh et al., 2013; Beleza et al., 2013) have provided a more nuanced picture of iris pigmentation. "
ABSTRACT: Objectives The main goals of this study are to 1) quantitatively measure skin, hair, and iris pigmentation in a diverse sample of individuals, 2) describe variation within and between these samples, and 3) demonstrate how quantitative measures can facilitate genotype-phenotype association tests.Materials and Methods We quantitatively characterize skin, hair, and iris pigmentation using the Melanin (M) Index (skin) and CIELab values (hair) in 1,450 individuals who self-identify as African American, East Asian, European, Hispanic, or South Asian. We also quantify iris pigmentation in a subset of these individuals using CIELab values from high-resolution iris photographs. We compare mean skin M index and hair and iris CIELab values among populations using ANOVA and MANOVA respectively and test for genotype-phenotype associations in the European sample.ResultsAll five populations are significantly different for skin (P <2 × 10−16) and hair color (P <2 × 10−16). Our quantitative analysis of iris and hair pigmentation reinforces the continuous, rather than discrete, nature of these traits. We confirm the association of three loci (rs16891982, rs12203592, and rs12913832) with skin pigmentation and four loci (rs12913832, rs12203592, rs12896399, and rs16891982) with hair pigmentation. Interestingly, the derived rs12203592 T allele located within the IRF4 gene is associated with lighter skin but darker hair color.DiscussionThe quantitative methods used here provide a fine-scale assessment of pigmentation phenotype and facilitate genotype-phenotype associations, even with relatively small sample sizes. This represents an important expansion of current investigations into pigmentation phenotype and associated genetic variation by including non-European and admixed populations. Am J Phys Anthropol, 2015. © 2015 Wiley Periodicals, Inc.American Journal of Physical Anthropology 09/2015; DOI:10.1002/ajpa.22861
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- "Information embedded within the human genome may provide insights into personal characteristics such as ethnicity , physical and physiological characteristics and age  . In forensic studies, characteristics inferred from DNA analysis make it possible for criminal investigations to evolve from the ''passive comparison'' into the ''active search'' stages. "
ABSTRACT: Next-generation sequencing (NGS) technology, with its high-throughput capacity and low cost, has developed rapidly in recent years and become an important analytical tool for many genomics researchers. New opportunities in the research domain of the forensic studies emerge by harnessing the power of NGS technology, which can be applied to simultaneously analyzing multiple loci of forensic interest in different genetic contexts, such as autosomes, mitochondrial and sex chromosomes. Furthermore, NGS technology can also have potential applications in many other aspects of research. These include DNA database construction, ancestry and phenotypic inferences, monozygotic twin studies, body fluid and species identification, and forensic animal, plant and microbiological analyses. Here we review the application of NGS technology in the field of forensic science with the aim of providing a reference for future forensics studies and practice.Genomics Proteomics & Bioinformatics 10/2014; 12(5). DOI:10.1016/j.gpb.2014.09.001