Shades of complexity: New perspectives on the evolution and genetic architecture of human skin

Influence of maternal and own genotype at tanning dependence-related SNPs on sun exposure in childhood

(2018) Jasmine Khouja et al.   BMC Medical Genetics

Estimating Time to the Common Ancestor for a Beneficial Allele

(2018) Joel Smith et al.   MOLECULAR BIOLOGY AND EVOLUTION

Darwinian positive selection on the pleiotropic effects of KITLG explain skin pigmentation and winter temperature adaptation in Eurasians

(2018) Zhaohui Yang et al.   MOLECULAR BIOLOGY AND EVOLUTION

The human skin microbiome

(2018) Allyson L. Byrd et al.   NATURE REVIEWS MICROBIOLOGY

Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure

(2018) Alessia Visconti et al.   Nature Communications

The genetic prehistory of the Baltic Sea region

(2018) Alissa Mittnik et al.   Nature Communications

Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation

(2018) Torsten Günther et al.   PLOS BIOLOGY

The influences of genes, the environment, and social factors on the evolution of skin color diversity in India

(2018) Florin Mircea Iliescu et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

A comprehensive map of genetic variation in the world’s largest ethnic group - Han Chinese

(2018) Charleston W K Chiang et al.   MOLECULAR BIOLOGY AND EVOLUTION

Global skin colour prediction from DNA

(2017) Susan Walsh et al.   HUMAN GENETICS

Genotype-Phenotype Study of the Middle Gangetic Plain in India Shows Association of rs2470102 with Skin Pigmentation

(2017) Anshuman Mishra et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

The colours of humanity: the evolution of pigmentation in the human lineage

(2017) Nina G. Jablonski et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Loci associated with skin pigmentation identified in African populations

(2017) Nicholas G. Crawford et al.   SCIENCE

Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry

(2017) Lida Rawofi et al.   PeerJ

Identification of a novel locus associated with skin colour in African-admixed populations

(2017) Natalia Hernandez-Pacheco et al.   Scientific Reports

Novel quantitative pigmentation phenotyping enhances genetic association, epistasis and prediction of human eye colour

(2017) Andreas Wollstein et al.   Scientific Reports

Association of genetic variants with skin pigmentation phenotype among populations of west Maharashtra, India

(2016) Manjari Jonnalagadda et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

Basis for the gain and subsequent dilution of epidermal pigmentation during human evolution: The barrier and metabolic conservation hypotheses revisited

(2016) Peter M. Elias et al.   AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY

The psoriasis-associated deletion of late cornified envelope genes LCE3B and LCE3C has been maintained under balancing selection since Human Denisovan divergence

(2016) Petar Pajic et al.   BMC EVOLUTIONARY BIOLOGY

Atopic Dermatitis Susceptibility Variants in FilaggrinHitchhikeHornerin Selective Sweep

(2016) Muthukrishnan Eaaswarkhanth et al.   Genome Biology and Evolution

Sex and MC1R variants in human pigmentation: Differences in tanning ability and sensitivity to sunlight between sexes

(2016) Barbara Hernando et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution

(2016) Zhaohui Yang et al.   MOLECULAR BIOLOGY AND EVOLUTION

Genomic analyses inform on migration events during the peopling of Eurasia

(2016) Luca Pagani et al.   NATURE

Photoprotectionversusphotodamage: updating an old but still unsolved controversy about melanin

(2016) F Solano   POLYMER INTERNATIONAL

Genomic reconstruction of the history of extant populations of India reveals five distinct ancestral components and a complex structure

(2016) Analabha Basu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Early farmers from across Europe directly descended from Neolithic Aegeans

(2016) Zuzana Hofmanová et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Detection of human adaptation during the past 2000 years

(2016) Yair Field et al.   SCIENCE

Whole metagenome profiling reveals skin microbiome-dependent susceptibility to atopic dermatitis flare

(2016) Kern Rei Chng et al.   Nature Microbiology

The genetics of an early Neolithic pastoralist from the Zagros, Iran

(2016) M. Gallego-Llorente et al.   Scientific Reports

Skin pigmentation variation among populations of West Maharashtra, India

(2015) Manjari Jonnalagadda et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

Association study confirms the role of twoOCA2polymorphisms in normal skin pigmentation variation in East Asian populations

(2015) Katherine Eaton et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies

(2015) Gleb Kichaev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation

(2015) Heather L. Norton et al.   AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY

MC1R diversity in Northern Island Melanesia has not been constrained by strong purifying selection and cannot explain pigmentation phenotype variation in the region

(2015) Heather L. Norton et al.   BMC GENETICS

The Evolution of Tanning Needs Its Day in the Sun

(2015) Quillen   HUMAN BIOLOGY

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

(2015) Fan Liu et al.   HUMAN GENETICS

The Evolution and Functional Impact of Human Deletion Variants Shared with Archaic Hominin Genomes

(2015) Yen-Lung Lin et al.   MOLECULAR BIOLOGY AND EVOLUTION

Genome-wide patterns of selection in 230 ancient Eurasians

(2015) Iain Mathieson et al.   NATURE

Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases

(2015) Tobias L Lenz et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Rapid reverse genetic screening using CRISPR in zebrafish

(2015) Arish N Shah et al.   NATURE METHODS

Functional validation of mouse tyrosinase non-coding regulatory DNA elements by CRISPR–Cas9-mediated mutagenesis

(2015) Davide Seruggia et al.   NUCLEIC ACIDS RESEARCH

Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms

(2015) Melissa Edwards et al.   Pigment Cell & Melanoma Research

A hidden Markov model for investigating recent positive selection through haplotype structure

(2015) Hua Chen et al.   THEORETICAL POPULATION BIOLOGY

Genomic Insights into the Ancestry and Demographic History of South America

(2015) Julian R. Homburger et al.   PLoS Genetics

The challenge of objective scar colour assessment in a clinical setting: using digital photography

(2015) J.C. Anderson et al.   Journal of Wound Care

Development and Applications of CRISPR-Cas9 for Genome Engineering

(2014) Patrick D. Hsu et al.   CELL

Advantageous diversity maintained by balancing selection in humans

(2014) Felix M Key et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Evidence That Loss-of-Function Filaggrin Gene Mutations Evolved in Northern Europeans to Favor Intracutaneous Vitamin D3 Production

(2014) Jacob P. Thyssen et al.   Evolutionary Biology

Development of a forensic skin colour predictive test

(2014) Olalla Maroñas et al.   Forensic Science International-Genetics

The common occurrence of epistasis in the determination of human pigmentation and its impact on DNA-based pigmentation phenotype prediction

(2014) Ewelina Pośpiech et al.   Forensic Science International-Genetics

Estimation of Epistatic Variance Components and Heritability in Founder Populations and Crosses

(2014) Alexander I. Young et al.   GENETICS

Highly Specific and Efficient CRISPR/Cas9-Catalyzed Homology-Directed Repair inDrosophila

(2014) Scott J. Gratz et al.   GENETICS

Expression of Human Skin-Specific Genes Defined by Transcriptomics and Antibody-Based Profiling

(2014) Per-Henrik D. Edqvist et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Neanderthal Origin of the Haplotypes Carrying the Functional Variant Val92Met in the MC1R in Modern Humans

(2014) Qiliang Ding et al.   MOLECULAR BIOLOGY AND EVOLUTION

Evolutionary Origin and Diversification of Epidermal Barrier Proteins in Amniotes

(2014) Bettina Strasser et al.   MOLECULAR BIOLOGY AND EVOLUTION

Multiplexed and Programmable Regulation of Gene Networks with an Integrated RNA and CRISPR/Cas Toolkit in Human Cells

(2014) Lior Nissim et al.   MOLECULAR CELL

Ancient human genomes suggest three ancestral populations for present-day Europeans

(2014) Iosif Lazaridis et al.   NATURE

Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European

(2014) Iñigo Olalde et al.   NATURE

The impact of whole-genome sequencing on the reconstruction of human population history

(2014) Krishna R. Veeramah et al.   NATURE REVIEWS GENETICS

Implications of the Admixture Process in Skin Color Molecular Assessment

(2014) Caio Cesar Silva de Cerqueira et al.   PLoS One

The genetics of Mexico recapitulates Native American substructure and affects biomedical traits

(2014) A. Moreno-Estrada et al.   SCIENCE

Genome flux and stasis in a five millennium transect of European prehistory

(2014) Cristina Gamba et al.   Nature Communications

Cuba: Exploring the History of Admixture and the Genetic Basis of Pigmentation Using Autosomal and Uniparental Markers

(2014) Beatriz Marcheco-Teruel et al.   PLoS Genetics

A Population Genetic Signal of Polygenic Adaptation

(2014) Jeremy J. Berg et al.   PLoS Genetics

Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals

(2014) Andrés Ruiz-Linares et al.   PLoS Genetics

Genetic Evidence for Recent Population Mixture in India

(2013) Priya Moorjani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An anthropological genetic perspective on creolization in the anglophone caribbean

(2013) Jada Benn Torres et al.   AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY

Technical Note: Comparing von Luschan skin color tiles and modern spectrophotometry for measuring human skin pigmentation

(2013) Anna K. Swiatoniowski et al.   AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY

Exploring signatures of positive selection in pigmentation candidate genes in populations of East Asian ancestry

(2013) Jessica L Hider et al.   BMC EVOLUTIONARY BIOLOGY

A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

(2013) Christian Praetorius et al.   CELL

Improved eye- and skin-color prediction based on 8 SNPs

(2013) Katie L. Hart et al.   CROATIAN MEDICAL JOURNAL

Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans

(2013) Mingfeng Zhang et al.   HUMAN MOLECULAR GENETICS

Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism

(2013) Ai-Hua Wei et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Efficient genome editing in zebrafish using a CRISPR-Cas system

(2013) Woong Y Hwang et al.   NATURE BIOTECHNOLOGY

Evolutionary mix-and-match with MFS transporters

(2013) M. G. Madej et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The CRISPR System—Keeping Zebrafish Gene Targeting Fresh

(2013) Patrick R. Blackburn et al.   Zebrafish

The Light Skin Allele of SLC24A5 in South Asians and Europeans Shares Identity by Descent

(2013) Chandana Basu Mallick et al.   PLoS Genetics

Genetic Architecture of Skin and Eye Color in an African-European Admixed Population

(2013) Sandra Beleza et al.   PLoS Genetics

Linkage and association scan for tanning ability in an isolated Mongolian population

(2012) Seung-Hwan Paik et al.   BMB Reports

The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA

(2012) Susan Walsh et al.   Forensic Science International-Genetics

Further development of forensic eye color predictive tests

(2012) Y. Ruiz et al.   Forensic Science International-Genetics

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

(2012) M. Visser et al.   GENOME RESEARCH

Association of melanogenesis genes with skin color variation among Japanese females

(2012) Yuko Abe et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese

(2012) Kyoko Yamaguchi et al.   JOURNAL OF HUMAN GENETICS

Genetics of Psoriasis: Evidence for Epistatic Interaction between Skin Barrier Abnormalities and Immune Deviation

(2012) Judith G.M. Bergboer et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

The Timing of Pigmentation Lightening in Europeans

(2012) Sandra Beleza et al.   MOLECULAR BIOLOGY AND EVOLUTION

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Skin Color Variation in Orang Asli Tribes of Peninsular Malaysia

(2012) Khai C. Ang et al.   PLoS One

Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations

(2012) Sophie I. Candille et al.   PLoS One

Functional Assessment of Human Coding Mutations Affecting Skin Pigmentation Using Zebrafish

(2012) Zurab R. Tsetskhladze et al.   PLoS One

The Admixture Structure and Genetic Variation of the Archipelago of Cape Verde and Its Implications for Admixture Mapping Studies

(2012) Sandra Beleza et al.   PLoS One

Transcriptome Analysis Reveals Markers of Aberrantly Activated Innate Immunity in Vitiligo Lesional and Non-Lesional Skin

(2012) Richard Yu et al.   PLoS One

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Genomic Variation in Seven Khoe-San Groups Reveals Adaptation and Complex African History

(2012) C. M. Schlebusch et al.   SCIENCE

The genetic prehistory of southern Africa

(2012) Joseph K. Pickrell et al.   Nature Communications

Development of a Panel of Genome-Wide Ancestry Informative Markers to Study Admixture Throughout the Americas

(2012) Joshua Mark Galanter et al.   PLoS Genetics

Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia

(2011) Mait Metspalu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans

(2011) Ellen E. Quillen et al.   HUMAN GENETICS

A global view of the OCA2-HERC2 region and pigmentation

(2011) Michael P. Donnelly et al.   HUMAN GENETICS

Atopic dermatitis: a disease of altered skin barrier and immune dysregulation

(2011) Mark Boguniewicz et al.   IMMUNOLOGICAL REVIEWS

Classic Selective Sweeps Were Rare in Recent Human Evolution

(2011) R. D. Hernandez et al.   SCIENCE

Adaptations to Climate-Mediated Selective Pressures in Humans

(2011) Angela M. Hancock et al.   PLoS Genetics

Barrier requirements as the evolutionary “driver” of epidermal pigmentation in humans

(2010) Peter M. Elias et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Evolution of Human Genetic and Phenotypic Variation in Africa

(2010) Michael C. Campbell et al.   CURRENT BIOLOGY

Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiation

(2010) Ana Luisa Kadekaro et al.   FASEB JOURNAL

Prediction of eye and skin color in diverse populations using seven SNPs

(2010) Olga Spichenok et al.   Forensic Science International-Genetics

Predicting Phenotype from Genotype: Normal Pigmentation

(2010) Robert K. Valenzuela et al.   JOURNAL OF FORENSIC SCIENCES

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis

(2010) Meg R. Gerstenblith et al.   Pigment Cell & Melanoma Research

Human skin pigmentation as an adaptation to UV radiation

(2010) N. G. Jablonski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

Better understanding of digital photography for skin color measurement: With a special emphasis on light characteristics

(2010) Soo Hong Seo et al.   SKIN RESEARCH AND TECHNOLOGY

Association of the OCA2 Polymorphism His615Arg with Melanin Content in East Asian Populations: Further Evidence of Convergent Evolution of Skin Pigmentation

(2010) Melissa Edwards et al.   PLoS Genetics

Vitamin D and the evolution of human depigmentation

(2009) George Chaplin et al.   AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY

Global distribution of genomic diversity underscores rich complex history of continental human populations

(2009) A. Auton et al.   GENOME RESEARCH

Signals of recent positive selection in a worldwide sample of human populations

(2009) J. K. Pickrell et al.   GENOME RESEARCH

Filaggrin in the frontline: role in skin barrier function and disease

(2009) A. Sandilands et al.   JOURNAL OF CELL SCIENCE

Genome-Wide Association Study of Tanning Phenotype in a Population of European Ancestry

(2009) Hongmei Nan et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Reconstructing Indian population history

(2009) David Reich et al.   NATURE

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

(2009) Rafael de Cid et al.   NATURE GENETICS

Genome-wide association study identifies three loci associated with melanoma risk

(2009) D Timothy Bishop et al.   NATURE GENETICS

A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population

(2009) Androuw Carrasco et al.   Pigment Cell & Melanoma Research

Genome-wide patterns of population structure and admixture in West Africans and African Americans

(2009) K. Bryc et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Genetic Structure and History of Africans and African Americans

(2009) S. A. Tishkoff et al.   SCIENCE

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Characterizing the admixed African ancestry of African Americans

(2009) Fouad Zakharia et al.   GENOME BIOLOGY

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene

(2008) Manfred Kayser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

(2008) Richard A. Sturm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic admixture, self-reported ethnicity, self-estimated admixture, and skin pigmentation among Hispanics and Native Americans

(2008) Yann C. Klimentidis et al.   AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY

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

(2008) Hans Eiberg et al.   HUMAN GENETICS

Two newly identified genetic determinants of pigmentation in Europeans

(2008) Patrick Sulem et al.   NATURE GENETICS

The Genetic Structure of Pacific Islanders

(2008) Jonathan S. Friedlaender et al.   PLoS Genetics

Genetic Variation in an Individual Human Exome

(2008) Pauline C. Ng et al.   PLoS Genetics

A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation

(2008) Jiali Han et al.   PLoS Genetics