Complex signatures of selection for the melanogenic loci TYR, TYRP1 and DCT in humans.
Complex signatures of selection for the melanogenic loci TYR, TYRP1 and DCT in humans.
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DOI：
10.1186/1471-2148-8-74
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发表时间：
2008-02-29
影响因子：
3.4
通讯作者：
de la Rúa C
中科院分区：
文献类型：
--
作者：
Alonso S;Izagirre N;Smith-Zubiaga I;Gardeazabal J;Díaz-Ramón JL;Díaz-Pérez JL;Zelenika D;Boyano MD;Smit N;de la Rúa C
观察到的紫外线入射和肤色之间的相关性，以及人类人群中皮肤反射率的地理分配，表明了人类皮肤色素沉着的适应性价值。我们使用Affymetrix U133a v2.0基因表达芯片研究了总共9个黑素细胞系(5个来自浅色捐赠者，4个来自深色捐赠者)及其各自的未照射对照的表达谱。为了揭示与人类皮肤色素沉着有关的基因座选择的特征，我们对三个表达差异最大的基因的近端调节区进行了4到5kb的重新测序，期望调节区的变异可能解释种内形态多样性，正如其他地方所建议的那样。与我们的预期相反，表达谱并没有将细胞聚集成未经照射的黑素细胞和照射的黑素细胞，或者形成浅色和深色的黑素细胞。相反，表达谱与培养液中是否含有牛脑垂体提取物(已知含有α-MSH)相关。这使我们能够区分正在合成黑色素的黑素细胞和不合成黑色素的黑素细胞。TYR、TYRP1和DCT是这两组之间表达差异最大的五个基因。近端调控侧翼区序列单倍型的群体遗传学分析包括Tajima‘s D、HEW和DHEW中和试验分析。这些都得到了Ehh测试的补充(在其他测试中)，其中通过一种新的方法获得了意义，该方法使用了具有重组的合并模型下的广泛模拟。我们观察到非洲人TYRP1等位基因的阳性选择以及亚洲人的DCT和TYRP1阳性选择的有力证据。然而，总体情况反映了一种复杂的选择模式，其中可能包括DCT在欧洲人中的主导地位。多样性模式清楚地证明了非洲人和亚洲人在色素沉着基因中的适应性选择。在欧洲人中，证据更为复杂，白皮肤可能涉及定向选择和平衡选择。因此，不同的非非洲人群可能通过不同的方式获得了浅色皮肤，因此浅色皮肤，或许也包括深色皮肤，可能是趋同进化的结果。
The observed correlation between ultraviolet light incidence and skin color, together with the geographical apportionment of skin reflectance among human populations, suggests an adaptive value for the pigmentation of the human skin. We have used Affymetrix U133a v2.0 gene expression microarrays to investigate the expression profiles of a total of 9 melanocyte cell lines (5 from lightly pigmented donors and 4 from darkly pigmented donors) plus their respective unirradiated controls. In order to reveal signatures of selection in loci with a bearing on skin pigmentation in humans, we have resequenced between 4 to 5 kb of the proximal regulatory regions of three of the most differently expressed genes, in the expectation that variation at regulatory regions might account for intraespecific morphological diversity, as suggested elsewhere. Contrary to our expectations, expression profiles did not cluster the cells into unirradiated versus irradiated melanocytes, or into lightly pigmented versus darkly pigmented melanocytes. Instead, expression profiles correlated with the presence of Bovine Pituitary Extract (known to contain α-MSH) in the media. This allowed us to differentiate between melanocytes that are synthesizing melanin and those that are not. TYR, TYRP1 and DCT were among the five most differently expressed genes between these two groups. Population genetic analyses of sequence haplotypes of the proximal regulatory flanking-regions included Tajima's D, HEW and DHEW neutrality tests analysis. These were complemented with EHH tests (among others) in which the significance was obtained by a novel approach using extensive simulations under the coalescent model with recombination. We observe strong evidence for positive selection for TYRP1 alleles in Africans and for DCT and TYRP1 in Asians. However, the overall picture reflects a complex pattern of selection, which might include overdominance for DCT in Europeans. Diversity patterns clearly evidence adaptive selection in pigmentation genes in Africans and Asians. In Europeans, the evidence is more complex, and both directional and balancing selection may be involved in light skin. As a result, different non-African populations may have acquired light skin by alternative ways, and so light skin, and perhaps dark skin too, may be the result of convergent evolution.
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影响因子：
5.8
作者：
Al-Shahrour, F;Díaz-Uriarte, R;Dopazo, J
通讯作者：
Dopazo, J
影响因子：
10.7
作者：
Izagirre, Neskuts;Garcia, Iker;Alonso, Santos
通讯作者：
Alonso, Santos
DOI：
10.1111/j.2517-6161.1995.tb02031.x
发表时间：
1995-01-01
影响因子：
5.8
作者：
BENJAMINI, Y;HOCHBERG, Y
通讯作者：
HOCHBERG, Y
DOI：
10.1034/j.1600-0749.2003.00037.x
发表时间：
2003-06-01
期刊：
PIGMENT CELL RESEARCH
影响因子：
--
作者：
Ito, S
通讯作者：
Ito, S
影响因子：
15.3
作者：
Kunisada, T;Lu, S Z;Yoshida, H;Nishikawa, S;Nishikawa, S;Mizoguchi, M;Hayashi, S;Tyrrell, L;Williams, D A;Wang, X;Longley, B J
通讯作者：
Longley, B J