Interactions Between HERC2, OCA2 and MC1R May Influence Human Pigmentation Phenotype

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Annals of Human Genetics

• Publication date

  2009-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1111/j.1469-1809.2009.00504.xPMID 19208107
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population

  2009cited by this paper
• Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method

  2008influential reference
• A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

  2008influential reference
• SLC45A2: a novel malignant melanoma‐associated gene

  2008cited by this paper
• Association of the SLC45A2 gene with physiological human hair colour variation

  2008influential reference
• Two newly identified genetic determinants of pigmentation in Europeans

  2008cited by this paper
• Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

  2008influential reference
• 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

  2008influential reference
• A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation

  2008cited by this paper
• Detection of gene x gene interactions in genome-wide association studies of human population data.

  2007cited by this paper
• Molecular Photofitting: Predicting Ancestry and Phenotype Using DNA

  2007cited by this paper
• Application of multi‐locus analytical methods to identify interacting loci in case‐control studies

  2007cited by this paper
• Prediction of Protein-protein Interactions on the Basis of Evolutionary Conservation of Protein Functions

  2007influential reference
• A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

  2007influential reference
• Genotype versus phenotype: human pigmentation.

  2007cited by this paper
• Genetic determinants of hair, eye and skin pigmentation in Europeans

  2007influential reference
• Site‐specific genetic divergence in parallel hybrid zones suggests nonallopatric evolution of reproductive barriers

  2006cited by this paper
• P gene mutations associated with oculocutaneous albinism type II (OCA2)

  2005influential reference
• Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation

  2005cited by this paper
• Epistasis: too often neglected in complex trait studies?

  2004cited by this paper
• The genetics of sun sensitivity in humans.

  2004cited by this paper
• The Evolution of Human Skin and Skin Color

  2004cited by this paper
• A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q.

  2004cited by this paper
• Computational analysis of gene-gene interactions using multifactor dimensionality reduction

  2004cited by this paper
• Novel MC1R variants in Ligurian melanoma patients and controls

  2004cited by this paper
• Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions

  2003influential reference
• The color loci of mice--a genetic century.

  2003cited by this paper
• Sequences associated with human iris pigmentation.

  2003cited by this paper
• The Ubiquitous Nature of Epistasis in Determining Susceptibility to Common Human Diseases

  2003cited by this paper
• Genetics of hair and skin color.

  2003influential reference
• P gene as an inherited biomarker of human eye color.

  2002cited by this paper
• Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans.

  2002cited by this paper
• Interaction between the melanocortin-1 receptor andP genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population

  2001cited by this paper
• Prenatal diagnosis of hereditary spastic paraplegia This article is a US Government work and is in the public domain in the USA.

  2001influential reference
• A new statistical method for haplotype reconstruction from population data.

  2001influential reference
• Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer.

  2001cited by this paper
• Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes.

  2001cited by this paper
• Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human.

  2000cited by this paper
• Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice

  1999cited by this paper
• Organization and sequence of the human P gene and identification of a new family of transport proteins.

  1995cited by this paper
• The validity and practicality of sun-reactive skin types I through VI.

  1988cited by this paper

• Predicting Physical Appearance from Low Template: State of the Art and Future Perspectives

  2026cites this paper
• A Nonsynonymous Single-nucleotide Polymorphism in SLC24A5 Regulates Feather Pigment Deposition in Chinese Yellow Quail

  2025cites this paper
• A comparative GWAS of eye colour in light and dark eye genetic backgrounds defined by HERC2 rs12913832 polymorphism

  2025cites this paper
• Genetic Prediction of Eye, Hair, and Skin Color: Forensic Applications and Challenges in Latin American Populations

  2025influential citation
• The Genetics and Evolution of Human Pigmentation

  2025cites this paper
• UVEAL MELANOMA: CURRENT EVIDENCE ON PROGNOSIS, TREATMENT AND POTENTIAL DEVELOPMENTS.

  2024cites this paper
• Skin pigmentation related variants in Mexican population and interaction effects on serum 25(OH)D concentration and vitamin D deficiency

  2024cites this paper
• Survival in uveal melanoma patients is linked to genetic variation at HERC2 SNP rs12913832.

  2024cites this paper
• Persistent Gene Flow Suggests an Absence of Reproductive Isolation in an African Antelope Speciation Model

  2024cites this paper
• A Comprehensive Review of Mammalian Pigmentation: Paving the Way for Innovative Hair Colour-Changing Cosmetics

  2023cites this paper
• Advancement in Human Face Prediction Using DNA

  2023cites this paper
• Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan

  2023cites this paper
• Identification of Polymorphisms in the HERC2-OCA2 Gene Locus and their Association with Feather Color in Quail

  2023cites this paper
• Study on the Correlation Between Iris Characteristics and Schizophrenia

  2022cites this paper
• A genome-wide epistatic network underlies the molecular architecture of continuous color variation of body extremities.

  2022cites this paper
• Persistent gene flow suggests an absence of reproductive isolation in an African antelope speciation model

  2022cites this paper
• Exploring Phenotypic Diversity of Human Iris Features and Skin Color in Punjabi and Khyber Pakhtunkhwa Population of Pakistan

  2022cites this paper
• Comprehensive in Silico Analyses of Single Nucleotide Variants of the Human Orthologues of 171 Murine Loci to Seek Novel Insights into the Genetics of Human Pigmentation

  2022cites this paper
• Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation

  2021cites this paper
• A genome-wide epistatic network underlies the molecular architecture of continuous color variation of body extremities: a rabbit model

  2021cites this paper
• Evolutionary genetics of skin pigmentation in African populations.

  2021cites this paper
• Inbreeding coefficients and runs of homozygosity islands in Brazilian water buffalo.

  2020cites this paper
• DNA-based Eye Color Prediction of Pakhtun Population Living in District Swat KP Pakistan

  2020cites this paper
• Eye color prediction using the IrisPlex system: a limited pilot study in the Iraqi population

  2020cites this paper
• Predicting target genes of non-coding regulatory variants with IRT

  2020cites this paper
• Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations

  2019cites this paper
• True colors: A literature review on the spatial distribution of eye and hair pigmentation.

  2019cites this paper
• HERCing: Structural and Functional Relevance of the Large HERC Ubiquitin Ligases

  2019cites this paper
• Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches

  2019cites this paper
• CRISPR mutagenesis confirms the role of oca2 in melanin pigmentation in Astyanax mexicanus.

  2018cites this paper
• Genetic variants associated with skin photosensitivity in a southern European population from Spain

  2018cites this paper
• Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA.

  2018cites this paper
• Association of common genetic variants with human skin color variation in Indian populations

  2018cites this paper
• Dissecting changes and differences of selective pressures in the evolution of human pigmentation

  2018cites this paper
• Evaluation of Illumina’s ForenSeqTM Signature Prep Kit for Eye and Hair Color as well as Biogeographical Ancestry Predictions

  2018cites this paper
• Forensic SNP Genotyping with SNaPshot: Development of a Novel In‐house SBE Multiplex SNP Assay ,

  2018cites this paper
• Is Eye Color Related to Dental Injection Pain? A Prospective, Randomized, Single‐blind Study

  2018cites this paper
• Investigating the impact of age-depended hair colour darkening during childhood on DNA-based hair colour prediction with the HIrisPlex system.

  2018cites this paper
• Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour

  2017cites this paper
• Advancements in forensic DNA-based identification

  2017cites this paper
• Global skin colour prediction from DNA

  2017cites this paper
• Association of pigmentation and melanocortin-one receptor genotype with susceptibility to noise-induced hearing loss in college-aged music students

  2017cites this paper
• Recognizing Latinos’ range of skin pigment and phototypes to enhance skin cancer prevention

  2017cites this paper
• Identification of a novel locus associated with skin colour in African-admixed populations

  2017cites this paper
• Elucidating the mechanisms or interactions involved in differing hair color follicles

  2016cites this paper
• Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

  2016influential citation
• Estimating the Ages of Selection Signals from Different Epochs in Human History.

  2016cites this paper
• Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics

  2016cites this paper
• Human adaptation and population differentiation in the light of ancient genomes

  2016cites this paper
• Selected gene polymorphisms effect on skin and hair pigmentation in Polish children at the prepubertal age.

  2016cites this paper
• Human Phenotypic Diversity: An Evolutionary Perspective.

  2016cites this paper
• Eight thousand years of natural selection in Europe

  2015cites this paper
• Eight thousand years of natural selection in Europe

  2015cites this paper
• Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes

  2015cites this paper
• Don't it make your brown eyes blue? A comparison of iris colour across latitude in Australian twins

  2015cites this paper
• SNP-microarrays can accurately identify the presence of an individual in complex forensic DNA mixtures.

  2015cites this paper
• Eight thousand years of natural selection in Europe

  2015cites this paper
• Testing for Ancient Selection Using Cross-population Allele Frequency Differentiation

  2015cites this paper
• RODRIGO RODENBUSCH ANÁLISE DE SNPs EM GENES DE PIGMENTAÇÃO HUMANA EM INDIVÍDUOS COM ALTO OU BAIXO CONTEÚDO DE MELANINA

  2015cites this paper
• From GWAS to Function: Transcriptional regulation of pigmentation genes in humans Transcriptional regulation of pigmentation genes in humans

  2015cites this paper
• Assessment of IrisPlex-based multiplex for eye and skin color prediction with application to a Portuguese population

  2015cites this paper
• Eight thousand years of natural selection in Europe

  2015cites this paper
• Eight thousand years of natural selection in Europe

  2015cites this paper
• Prediction of Human Pigmentation Traits from DNA Polymorphisms

  2015cites this paper
• The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population

  2015cites this paper
• Forensic DNA Phenotyping: Predicting human appearance from crime scene material for investigative purposes.

  2015cites this paper
• Genetic differences among ethnic groups

  2015cites this paper
• Prediction of Physical Characteristics, such as Eye, Hair, and Skin Color Based Solely on DNA

  2014cites this paper
• The common occurrence of epistasis in the determination of human pigmentation and its impact on DNA-based pigmentation phenotype prediction.

  2014cites this paper
• Cuba: Exploring the History of Admixture and the Genetic Basis of Pigmentation Using Autosomal and Uniparental Markers

  2014cites this paper
• Increased risk of developing cutaneous malignant melanoma is associated with variation in pigmentation genes and VDR, and may involve epistatic effects

  2014cites this paper
• Gender and eye colour prediction discrepancies: A reply to criticisms.

  2014cites this paper
• Association of Genetic Variants with Self-Assessed Color Categories in Brazilians

  2014cites this paper
• Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y

  2014influential citation
• The author(s) shown below used Federal funding provided by the U.S. Department of Justice to prepare the following resource: Document Title: The Biological Age of a Bloodstain Donor Author(s):

  2014cites this paper
• The Puzzle of European Hair, Eye, and Skin Color

  2014cites this paper
• Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation

  2014influential citation
• Evaluation of the IrisPlex DNA-based eye color prediction assay in a United States population.

  2014cites this paper
• The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model.

  2014cites this paper
• Bona fide colour: DNA prediction of human eye and hair colour from ancient and contemporary skeletal remains

  2013cites this paper
• Prediction of people’s origin from degraded DNA—presentation of SNP assays and calculation of probability

  2013cites this paper
• Further development of forensic eye color predictive tests.

  2013cites this paper
• Prediction of eye color in the Slovenian population using the IrisPlex SNPs

  2013cites this paper
• Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model.

  2013cites this paper
• Document Title: DNA Assay Development and Validation for Pigment-Related Features to Assist in the Identification of Missing Persons and Human Remains

  2013cites this paper
• DNA Phenotyping: The prediction of human pigmentation traits from genetic data

  2013cites this paper
• Forensic Ancestry and Phenotype SNP Analysis and Integration with Established Forensic Markers

  2013cites this paper
• Análise de polimorfismos do gene MC1R associados a fenótipos humanos de pigmentação na população brasileira.

  2013cites this paper
• DNA polymorphisms in humans

  2013cites this paper
• Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example

  2013cites this paper
• Colorful DNA polymorphisms in humans.

  2013cites this paper
• DNA polymorphisms in humans an Liua ,

  2013cites this paper
• Adrenal function and MC1R gene analysis in a prepubertal girl with generalized hyperpigmentation: case report

  2013cites this paper
• The Convergent Evolution of Blue Iris Pigmentation in Primates Took Distinct Molecular Paths

  2013cites this paper
• MELANOCORTIN-1 RECEPTOR VARIANTS IN SKIN CARCINOGENESIS: A POOLED-ANALYSIS

  2012influential citation
• Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

  2012cites this paper
• Künstliche neuronale Netze in der genetischen Epidemiologie

  2012cites this paper
• Verification of eye and skin color predictors in various populations.

  2012cites this paper
• New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing

  2012cites this paper
• Genome-wide gene expression profiling of the Angelman syndrome mouse with Ube3a mutation : from genotype to phenotype

  2012cites this paper