scholarly journals OCA2 Gene

2020 ◽  
Author(s):  
Keyword(s):  
2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Kenneth K. Kidd ◽  
Andrew J. Pakstis ◽  
Michael P. Donnelly ◽  
Ozlem Bulbul ◽  
Lotfi Cherni ◽  
...  

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.


2005 ◽  
Vol 13 (8) ◽  
pp. 913-920 ◽  
Author(s):  
Anne-Sophie Jannot ◽  
Roubila Meziani ◽  
Guylene Bertrand ◽  
Benedicte Gérard ◽  
Vincent Descamps ◽  
...  

2009 ◽  
Vol 55 (2) ◽  
pp. 103-111 ◽  
Author(s):  
Helene C Johanson ◽  
Wei Chen ◽  
Carol Wicking ◽  
Richard A Sturm

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

Gene ◽  
2014 ◽  
Vol 537 (1) ◽  
pp. 79-84 ◽  
Author(s):  
Valeria Rimoldi ◽  
Letizia Straniero ◽  
Rosanna Asselta ◽  
Lucia Mauri ◽  
Emanuela Manfredini ◽  
...  

2011 ◽  
Vol 54 (4) ◽  
pp. e446-e450 ◽  
Author(s):  
Lilia Kraoua ◽  
Myriam Chaabouni ◽  
Elisabeth Ewers ◽  
Imen Chelly ◽  
Ines Ouertani ◽  
...  

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Suzanne V. Saenko ◽  
Sangeet Lamichhaney ◽  
Alvaro Martinez Barrio ◽  
Nima Rafati ◽  
Leif Andersson ◽  
...  

2013 ◽  
Vol 68 (1) ◽  
pp. 97-109 ◽  
Author(s):  
Balu Kamaraj ◽  
Rituraj Purohit

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