Literature DB >> 20158590

Predicting phenotype from genotype: normal pigmentation.

Robert K Valenzuela1, Miquia S Henderson, Monica H Walsh, Nanibaa' A Garrison, Jessica T Kelch, Orit Cohen-Barak, Drew T Erickson, F John Meaney, J Bruce Walsh, Keith C Cheng, Shosuke Ito, Kazumasa Wakamatsu, Tony Frudakis, Matthew Thomas, Murray H Brilliant.   

Abstract

Genetic information in forensic studies is largely limited to CODIS data and the ability to match samples and assign them to an individual. However, there are circumstances, in which a given DNA sample does not match anyone in the CODIS database, and no other information about the donor is available. In this study, we determined 75 SNPs in 24 genes (previously implicated in human or animal pigmentation studies) for the analysis of single- and multi-locus associations with hair, skin, and eye color in 789 individuals of various ethnic backgrounds. Using multiple linear regression modeling, five SNPs in five genes were found to account for large proportions of pigmentation variation in hair, skin, and eyes in our across-population analyses. Thus, these models may be of predictive value to determine an individual's pigmentation type from a forensic sample, independent of ethnic origin.

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Year:  2010        PMID: 20158590      PMCID: PMC3626268          DOI: 10.1111/j.1556-4029.2009.01317.x

Source DB:  PubMed          Journal:  J Forensic Sci        ISSN: 0022-1198            Impact factor:   1.832


  48 in total

1.  Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4.

Authors:  J M Newton; O Cohen-Barak; N Hagiwara; J M Gardner; M T Davisson; R A King; M H Brilliant
Journal:  Am J Hum Genet       Date:  2001-09-26       Impact factor: 11.025

Review 2.  Sequences associated with human iris pigmentation.

Authors:  Tony Frudakis; Matthew Thomas; Zach Gaskin; K Venkateswarlu; K Suresh Chandra; Siva Ginjupalli; Sitaram Gunturi; Sivamani Natrajan; Viswanathan K Ponnuswamy; K N Ponnuswamy
Journal:  Genetics       Date:  2003-12       Impact factor: 4.562

3.  Distinctive distribution of AIM1 polymorphism among major human populations with different skin color.

Authors:  Kazuhiro Nakayama; Shoji Fukamachi; Hiroshi Kimura; Yoshiro Koda; Augustinus Soemantri; Takafumi Ishida
Journal:  J Hum Genet       Date:  2002       Impact factor: 3.172

4.  The usefulness of 4-amino-3-hydroxyphenylalanine as a specific marker of pheomelanin.

Authors:  Kazumasa Wakamatsu; Shosuke Ito; Jonathan L Rees
Journal:  Pigment Cell Res       Date:  2002-06

Review 5.  Advanced chemical methods in melanin determination.

Authors:  Kazumasa Wakamatsu; Shosuke Ito
Journal:  Pigment Cell Res       Date:  2002-06

6.  A polymorphism in the agouti signaling protein gene is associated with human pigmentation.

Authors:  Peter A Kanetsky; Jennifer Swoyer; Saarene Panossian; Robin Holmes; DuPont Guerry; Timothy R Rebbeck
Journal:  Am J Hum Genet       Date:  2002-02-06       Impact factor: 11.025

7.  P gene as an inherited biomarker of human eye color.

Authors:  Timothy R Rebbeck; Peter A Kanetsky; Amy H Walker; Robin Holmes; Allan C Halpern; Lynn M Schuchter; David E Elder; DuPont Guerry
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2002-08       Impact factor: 4.254

8.  Skin pigmentation, biogeographical ancestry and admixture mapping.

Authors:  Mark D Shriver; Esteban J Parra; Sonia Dios; Carolina Bonilla; Heather Norton; Celina Jovel; Carrie Pfaff; Cecily Jones; Aisha Massac; Neil Cameron; Archie Baron; Tabitha Jackson; George Argyropoulos; Li Jin; Clive J Hoggart; Paul M McKeigue; Rick A Kittles
Journal:  Hum Genet       Date:  2003-02-11       Impact factor: 4.132

9.  Red hair is the null phenotype of MC1R.

Authors:  Kimberley A Beaumont; Sri N Shekar; Anthony L Cook; David L Duffy; Richard A Sturm
Journal:  Hum Mutat       Date:  2008-08       Impact factor: 4.878

Review 10.  Genetics of hair and skin color.

Authors:  Jonathan L Rees
Journal:  Annu Rev Genet       Date:  2003       Impact factor: 16.830

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  31 in total

1.  Tooth, skin, hair and eye colour interrelationships in Greek young adults.

Authors:  Panagiotis E Lagouvardos; Ioana Tsamali; Christine Papadopoulou; Gregory Polyzois
Journal:  Odontology       Date:  2012-02-19       Impact factor: 2.634

2.  Anything you touch may be used against you.

Authors:  Philip Hunter
Journal:  EMBO Rep       Date:  2010-06       Impact factor: 8.807

3.  Assessment of IrisPlex-based multiplex for eye and skin color prediction with application to a Portuguese population.

Authors:  Paulo Dario; Helena Mouriño; Ana Rita Oliveira; Isabel Lucas; Teresa Ribeiro; Maria João Porto; Jorge Costa Santos; Deodália Dias; Francisco Corte Real
Journal:  Int J Legal Med       Date:  2015-08-20       Impact factor: 2.686

Review 4.  Predicting genetic predisposition in humans: the promise of whole-genome markers.

Authors:  Gustavo de los Campos; Daniel Gianola; David B Allison
Journal:  Nat Rev Genet       Date:  2010-11-03       Impact factor: 53.242

5.  Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans.

Authors:  Leonie C Jacobs; Andreas Wollstein; Oscar Lao; Albert Hofman; Caroline C Klaver; André G Uitterlinden; Tamar Nijsten; Manfred Kayser; Fan Liu
Journal:  Hum Genet       Date:  2012-10-11       Impact factor: 4.132

6.  Skin pigmentation and genetic variants in an admixed Brazilian population of primarily European ancestry.

Authors:  Jeppe D Andersen; Olivia S Meyer; Filipa Simão; Juliana Jannuzzi; Elizeu Carvalho; Mikkel M Andersen; Vania Pereira; Claus Børsting; Niels Morling; Leonor Gusmão
Journal:  Int J Legal Med       Date:  2020-05-09       Impact factor: 2.686

7.  Model-based prediction of human hair color using DNA variants.

Authors:  Wojciech Branicki; Fan Liu; Kate van Duijn; Jolanta Draus-Barini; Ewelina Pośpiech; Susan Walsh; Tomasz Kupiec; Anna Wojas-Pelc; Manfred Kayser
Journal:  Hum Genet       Date:  2011-01-04       Impact factor: 4.132

8.  A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Authors:  Katerina Zorina-Lichtenwalter; Ryan N Lichtenwalter; Dima V Zaykin; Marc Parisien; Simon Gravel; Andrey Bortsov; Luda Diatchenko
Journal:  Hum Mol Genet       Date:  2019-06-15       Impact factor: 6.150

9.  HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.

Authors:  Mijke Visser; Manfred Kayser; Robert-Jan Palstra
Journal:  Genome Res       Date:  2012-01-10       Impact factor: 9.043

10.  Genetic Ancestry, Skin Reflectance and Pigmentation Genotypes in Association with Serum Vitamin D Metabolite Balance.

Authors:  Robin Taylor Wilson; Alanna N Roff; P Jenny Dai; Tracey Fortugno; Jonathan Douds; Gang Chen; Gary L Grove; Sheila Ongeri Nikiforova; Jill Barnholtz-Sloan; Tony Frudakis; Vernon M Chinchilli; Terryl J Hartman; Laurence M Demers; Mark D Shriver; Victor A Canfield; Keith C Cheng
Journal:  Horm Mol Biol Clin Investig       Date:  2011-09
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