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Items: 1 to 20 of 140

1.

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

Visser M, Kayser M, Palstra RJ.

Genome Res. 2012 Mar;22(3):446-55. doi: 10.1101/gr.128652.111. Epub 2012 Jan 10.

2.

Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.

Visser M, Kayser M, Grosveld F, Palstra RJ.

Pigment Cell Melanoma Res. 2014 Mar;27(2):169-77. doi: 10.1111/pcmr.12210. Review.

PMID:
24387780
3.

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.

Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L.

Hum Genet. 2008 Mar;123(2):177-87. doi: 10.1007/s00439-007-0460-x. Epub 2008 Jan 3.

PMID:
18172690
4.

Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.

Ibarrola-Villava M, Fernandez LP, Pita G, Bravo J, Floristan U, Sendagorta E, Feito M, Avilés JA, Martin-Gonzalez M, Lázaro P, Benítez J, Ribas G.

Exp Dermatol. 2010 Sep;19(9):836-44. doi: 10.1111/j.1600-0625.2010.01115.x. Epub 2010 Jul 14.

PMID:
20629734
5.

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

Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, Martin NG, Montgomery GW.

Am J Hum Genet. 2008 Feb;82(2):424-31. doi: 10.1016/j.ajhg.2007.11.005. Epub 2008 Jan 24.

6.

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

Branicki W, Brudnik U, Wojas-Pelc A.

Ann Hum Genet. 2009 Mar;73(2):160-70. doi: 10.1111/j.1469-1809.2009.00504.x. Epub 2009 Feb 4.

7.

Human skin color is influenced by an intergenic DNA polymorphism regulating transcription of the nearby BNC2 pigmentation gene.

Visser M, Palstra RJ, Kayser M.

Hum Mol Genet. 2014 Nov 1;23(21):5750-62. doi: 10.1093/hmg/ddu289. Epub 2014 Jun 10.

PMID:
24916375
8.

Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter.

Visser M, Palstra RJ, Kayser M.

Hum Mol Genet. 2015 May 1;24(9):2649-61. doi: 10.1093/hmg/ddv029. Epub 2015 Jan 27.

PMID:
25631878
9.

Human eye colour and HERC2, OCA2 and MATP.

Mengel-From J, Børsting C, Sanchez JJ, Eiberg H, Morling N.

Forensic Sci Int Genet. 2010 Oct;4(5):323-8. doi: 10.1016/j.fsigen.2009.12.004. Epub 2010 Jan 12.

PMID:
20457063
10.

Genetics of human iris colour and patterns.

Sturm RA, Larsson M.

Pigment Cell Melanoma Res. 2009 Oct;22(5):544-62. doi: 10.1111/j.1755-148X.2009.00606.x. Epub 2009 Jul 8. Review.

PMID:
19619260
11.

Genetic analyses of the human eye colours using a novel objective method for eye colour classification.

Andersen JD, Johansen P, Harder S, Christoffersen SR, Delgado MC, Henriksen ST, Nielsen MM, Sørensen E, Ullum H, Hansen T, Dahl AL, Paulsen RR, Børsting C, Morling N.

Forensic Sci Int Genet. 2013 Sep;7(5):508-15. doi: 10.1016/j.fsigen.2013.05.003. Epub 2013 Jun 28.

PMID:
23948321
12.

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

Cook AL, Chen W, Thurber AE, Smit DJ, Smith AG, Bladen TG, Brown DL, Duffy DL, Pastorino L, Bianchi-Scarra G, Leonard JH, Stow JL, Sturm RA.

J Invest Dermatol. 2009 Feb;129(2):392-405. doi: 10.1038/jid.2008.211. Epub 2008 Jul 24.

13.

Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.

Iida R, Ueki M, Takeshita H, Fujihara J, Nakajima T, Kominato Y, Nagao M, Yasuda T.

Cell Biochem Funct. 2009 Jul;27(5):323-7. doi: 10.1002/cbf.1572.

PMID:
19472299
14.

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

Kayser M, Liu F, Janssens AC, Rivadeneira F, Lao O, van Duijn K, Vermeulen M, Arp P, Jhamai MM, van Ijcken WF, den Dunnen JT, Heath S, Zelenika D, Despriet DD, Klaver CC, Vingerling JR, de Jong PT, Hofman A, Aulchenko YS, Uitterlinden AG, Oostra BA, van Duijn CM.

Am J Hum Genet. 2008 Feb;82(2):411-23. doi: 10.1016/j.ajhg.2007.10.003. Epub 2008 Jan 25. Erratum in: Am J Hum Genet. 2008 Mar;82(3):801.

15.

A global view of the OCA2-HERC2 region and pigmentation.

Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, Zhukova OV, Kim JJ, Siniscalco M, New M, Li H, Kajuna SL, Manolopoulos VG, Speed WC, Pakstis AJ, Kidd JR, Kidd KK.

Hum Genet. 2012 May;131(5):683-96. doi: 10.1007/s00439-011-1110-x. Epub 2011 Nov 8.

16.

Blue eyes in lemurs and humans: same phenotype, different genetic mechanism.

Bradley BJ, Pedersen A, Mundy NI.

Am J Phys Anthropol. 2009 Jun;139(2):269-73. doi: 10.1002/ajpa.21010.

PMID:
19278018
17.

Selected gene polymorphisms effect on skin and hair pigmentation in Polish children at the prepubertal age.

Sitek A, Rosset I, Żądzińska E, Siewierska-Górska A, Pietrowska E, Strapagiel D.

Anthropol Anz. 2016 Nov 1;73(4):283-293. Epub 2016 Aug 17.

PMID:
27534414
18.

A conserved transcriptional enhancer that specifies Tyrp1 expression to melanocytes.

Murisier F, Guichard S, Beermann F.

Dev Biol. 2006 Oct 15;298(2):644-55. Epub 2006 May 23.

19.
20.

Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population.

Andrade ES, Fracasso NCA, Strazza Júnior PS, Simões AL, Mendes-Junior CT.

Leg Med (Tokyo). 2017 Jan;24:78-83. doi: 10.1016/j.legalmed.2016.12.003. Epub 2016 Dec 18.

PMID:
28081795

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