In addition, the data reveal that this was a more genetically diverse population than the central and western European hunter - gatherers living during the same epoch and that they also show pattern of adaptation to high latitude environments, including high frequencies of low
pigmentation variants as well as a gene region associated with physical performance, which shows strong continuity into modern - day northern Europeans.
The papers, «Two newly identified genetic determinants of pigmentation in Europeans» and «ASIP and TYR
pigmentation variants associate with cutaneous melanoma and basal cell carcinoma,» are published today in the online edition of Nature Genetics, at www.nature.com/ng, and will be published in an upcoming print edition of the journal.
The researchers believe that such
pigmentation variants also contribute to a higher melanoma risk in the family members who do not carry the mutation.
Previous studies have shown that people with the mutation who also have certain
pigmentation variants run an even higher risk of melanoma.
«This suggests that dark - skinned people with this mutation probably don't develop melanoma as often and are therefore not tested for this specific mutation, presumably because they lack the risk - modifying
pigmentation variants that increase the risk of melanoma,» says Dr Helgadottir.
Not exact matches
So far, Capra's team has found three functional
variants, which are associated with addiction to nicotine, a wider waistline, and skin
pigmentation.
The hunter - gatherers also had a high frequency of genetic
variants linked to reduced skin
pigmentation — a known adaptation to environments with low UV radiation, such as those at high latitude.
We identify previously uncharacterized genes and
variants associated with skin
pigmentation in ethnically diverse Africans.
Genetically and phenotypically diverse African populations are informative for mapping genetic
variants associated with skin
pigmentation.
A genome - wide association study (GWAS) of 1570 Africans identified
variants significantly associated with skin
pigmentation, which clustered in four genomic regions that together account for almost 30 % of the phenotypic variation.
Examining ethnically diverse African genomes, we identify
variants in or near SLC24A5, MFSD12, DDB1, TMEM138, OCA2, and HERC2 that are significantly associated with skin
pigmentation.
These
variants arose independently from eye and skin
pigmentation — associated
variants in non-Africans.
We also identify
variants at OCA2 that are correlated with alternative splicing; alleles associated with light
pigmentation are correlated with a shorter transcript, which lacks a transmembrane domain.
Several different
variants are all uniquely associated with
pigmentation near these genes, and
variants in these genes have been associated with
pigmentation in animals.
Reykjavik, ICELAND, May 18, 2008 — In two papers published today, deCODE scientists and academic colleagues from Europe and the U.S. expand upon the company's recent findings in the genetics of
pigmentation traits in people of European descent, and demonstrate that certain of these common
variants also confer risk of two types of skin cancer.
Common
variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or
pigmentation traits.
If you do this exercise, you will see, at the very extreme top of the list,
variants that are involved in skin
pigmentation, in eye color, in hair color.
Depending on the model
variant, the seat upholstery is an Alcantara / leather combination or Fine Nappa; on the R8 Spyder a special
pigmentation reduces heating from direct sunlight.
Some breeds are prone to unique
variants of common
pigmentation disorder.