scholarly journals OCA2 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Oca2 Gene

scholarly journals The distinctive geographic patterns of common pigmentation variants at the OCA2 gene

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Kenneth K. Kidd ◽  
Andrew J. Pakstis ◽  
Michael P. Donnelly ◽  
Ozlem Bulbul ◽  
Lotfi Cherni ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Oculocutaneous Albinism ◽  
Selection Effects ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Eye Color ◽  
Geographic Patterns ◽  
Population Genetic Variation ◽  
Oca2 Gene

Abstract Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. The diverse geographic patterns for variant frequencies at OCA2 have been evident but have not been systematically investigated, especially outside of Europe. Here we examine population genetic variation in and near the OCA2 gene from a worldwide perspective. The very different patterns of genetic variation found across world regions suggest strong selection effects may have been at work over time. For example, analyses involving the variants that affect pigmentation of the iris argue that the derived allele of the rs1800407 single nucleotide polymorphism, which produces a hypomorphic protein, may have contributed to the previously demonstrated positive selection in Europe for the enhancer variant responsible for light eye color. More study is needed on the relationships of the genetic variation at OCA2 to variation in pigmentation in areas beyond Europe.

scholarly journals Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma

2005 ◽  
Vol 13 (8) ◽  
pp. 913-920 ◽  
Author(s):  
Anne-Sophie Jannot ◽  
Roubila Meziani ◽  
Guylene Bertrand ◽  
Benedicte Gérard ◽  
Vincent Descamps ◽  
...  
Keyword(s):  
Genetic Susceptibility ◽  
Pink Eyed Dilution ◽  
Oca2 Gene

scholarly journals Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community

2009 ◽  
Vol 55 (2) ◽  
pp. 103-111 ◽  
Author(s):  
Helene C Johanson ◽  
Wei Chen ◽  
Carol Wicking ◽  
Richard A Sturm
Keyword(s):  
Oculocutaneous Albinism ◽  
High Incidence ◽  
Oca2 Gene

The OCA2 gene as a marker for eye colour prediction

2008 ◽  
Vol 1 (1) ◽  
pp. 536-537
Author(s):  
W. Branicki ◽  
A. Szczerbińska ◽  
U. Brudnik ◽  
P. Wolańska-Nowak ◽  
T. Kupiec
Keyword(s):  
Eye Colour ◽  
Oca2 Gene

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II

Gene ◽  
2014 ◽  
Vol 537 (1) ◽  
pp. 79-84 ◽  
Author(s):  
Valeria Rimoldi ◽  
Letizia Straniero ◽  
Rosanna Asselta ◽  
Lucia Mauri ◽  
Emanuela Manfredini ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Oculocutaneous Albinism ◽  
Type Ii ◽  
Splicing Mutations ◽  
Oca2 Gene

Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report

2011 ◽  
Vol 54 (4) ◽  
pp. e446-e450 ◽  
Author(s):  
Lilia Kraoua ◽  
Myriam Chaabouni ◽  
Elisabeth Ewers ◽  
Imen Chelly ◽  
Ines Ouertani ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Oca2 Gene

scholarly journals Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 gene

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Suzanne V. Saenko ◽  
Sangeet Lamichhaney ◽  
Alvaro Martinez Barrio ◽  
Nima Rafati ◽  
Leif Andersson ◽  
...  
Keyword(s):  
Ltr Retrotransposon ◽  
Corn Snake ◽  
Oca2 Gene

Computational Screening of Disease-Associated Mutations in OCA2 Gene

2013 ◽  
Vol 68 (1) ◽  
pp. 97-109 ◽  
Author(s):  
Balu Kamaraj ◽  
Rituraj Purohit
Keyword(s):  
Computational Screening ◽  
Oca2 Gene
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