A global view of the OCA2-HERC2 region and pigmentation (Q24597529)

11

Hui Li

0 references

Kenneth Kidd

17

Kenneth K Kidd

0 references

David Gurwitz

4

David Gurwitz

0 references

Csaba Barta

5

Csaba Barta

0 references

author name string

Michael P Donnelly

1

0 references

Peristera Paschou

2

0 references

Ru-Band Lu

6

0 references

Olga V Zhukova

7

0 references

Jong-Jin Kim

8

0 references

Marcello Siniscalco

9

0 references

Maria New

10

0 references

Sylvester L B Kajuna

12

0 references

Vangelis G Manolopoulos

13

0 references

William C Speed

14

0 references

Andrew J Pakstis

15

0 references

Judith R Kidd

Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation

16

0 references

language of work or name

English

0 references

publication date

May 2012

0 references

published in

Human Genetics

0 references

volume

131

0 references

issue

5

0 references

page(s)

683-96

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Predicting phenotype from genotype: normal pigmentation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Molecular genetics of human pigmentation diversity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Genetic determinants of hair, eye and skin pigmentation in Europeans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Genetic evidence for the convergent evolution of light skin in Europeans and East Asians

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Worldwide human relationships inferred from genome-wide patterns of variation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Generating samples under a Wright-Fisher neutral model of genetic variation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Genotype, haplotype and copy-number variation in worldwide human populations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Positive natural selection in the human lineage

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Digital quantification of human eye color highlights genetic association of three new loci

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Genetics of human iris colour and patterns

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Evidence of positive selection on a class I ADH locus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Sequences associated with human iris pigmentation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Human pigmentation genes: identification, structure and consequences of polymorphic variation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

27 September 2017

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1110-X

Screening for recently selected alleles by analysis of human haplotype similarity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1110-X

A scan for signatures of positive selection in candidate loci for skin pigmentation in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1110-X

Human eye colour and HERC2, OCA2 and MATP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1110-X

Gene-gene interactions contribute to eye colour variation in humans.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

Developmental validation of the IrisPlex system: determination of blue and brown iris colour for forensic intelligence.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325407

HAPLOT: a graphical comparison of haplotype blocks, tagSNP sets and SNP variation for multiple populations

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22065085

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22065085

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-011-1110-X

1 reference

Dimensions Publication ID

1400706

1018786701

0 references

1400706

1 reference

1 reference

1 reference