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耳垢(Earwax)的干湿状态由ABCC11基因决定的,日本长崎大学新川诏夫(Norio Niikawa)教授将研究结果发表在2006年Nature。

https://www.nature.com/articles/ng1733

Abstract:Human earwax consists of wet and dry types. Dry earwax is frequent in East Asians, whereas wet earwax is common in other populations. Here we show that a SNP, 538G → A (rs17822931), in the ABCC11 gene is responsible for determination of earwax type. The AA genotype corresponds to dry earwax, and GA and GG to wet type. A 27-bp deletion in ABCC11 exon 29 was also found in a few individuals of Asian ancestry. A functional assay demonstrated that cells with allele A show a lower excretory activity for cGMP than those with allele G. The allele A frequency shows a north-south and east-west downward geographical gradient; worldwide, it is highest in Chinese and Koreans, and a common dry-type haplotype is retained among various ethnic populations. These suggest that the allele A arose in northeast Asia and thereafter spread through the world. The 538G → A SNP is the first example of DNA polymorphism determining a visible genetic trait.

突变地点(538G → A)是东北亚,然后扩散到世界各地。
21# ChinaHistory
作者团队得出‘东北亚起源’的结论是欠妥的。 根据原文:

  族系No. of individuals with genotypesNFrequency of allele“A”
AA (frequency)GAGG
韩国Daegu city100 (1.000)001001
中国南北汉族42 (0.808)100520.904
蒙古喀尔喀蒙古126 (0.759)3641660.867
日本Nagasaki 87 (0.690)35*41260.829
Okinawa 30 (0.517)253580.733
Yonaguni13 (0.433)152300.683

北海道阿依努土著31 (0.534)232580.733
越南多个地区82 (0.536)60111530.732
泰国北部地区215 (0.505)163484260.696
曼谷31 (0.633)108490.735
南部地区2 (0.026)2352770.175
印尼加里曼丹Dayak12 (0.293)239410.573

苏拉威西27 (0.270)49241000.515
弗洛勒斯18 (0.300)2517600.508
Sumba9 (0.180)1625500.34

爪哇0 (0.000)231330.03
马来西亚婆罗洲北部沙芭24 (0.393)2710610.566
Bentong tribe8 (0.113)4023710.394
台湾阿美族34 (0.330)48211030.563
Native American§6† (0.300)8†6200.5
菲律宾Palawan11 (0.229)2314480.469
Easter Islander§4 (0.148)176270.463
太平洋岛屿土著1 (0.143)1570.429
Bolivian§¶Aymara5 (0.167)1411300.4
哈萨克6 (0.200)1113300.383


   可以看出,东亚南方族系的频度并不低,根据最新的ADMIXTURE结果,他们几乎没有‘东北亚成分’。而携带明显的‘东北亚成分’的哈萨克族,其频度却低于多数南方族系,因此基本可以排除起源于东北亚的可能性。   合理的解释,还是与史前的中国人有关,地点为华中或华中偏北一带比较合理。
物格而后知至,知至而后意诚,意诚而后心正,心正而后身修,身修而后家齐,家齐而后国治,国治而后天下平...
22#  你那个表不是原文翻译,属伪造吧!!Hehe!!!
23# ChinaHistory
Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539816/#!po=12.5000

作者:Norio Niikawa
物格而后知至,知至而后意诚,意诚而后心正,心正而后身修,身修而后家齐,家齐而后国治,国治而后天下平...
23# ChinaHistory
即便是根据你上面提供的同一个作者发表的论文,也看不出这个变异与东北亚高度相关

ABCII-南北频度对比1-新川-2006nature.png
2018-1-11 09:54



可以看出,东亚南方族系包括西南地区的族系的频度,也是高于某些‘东北亚血统’更多的北方族系
物格而后知至,知至而后意诚,意诚而后心正,心正而后身修,身修而后家齐,家齐而后国治,国治而后天下平...
掐头去尾地引用原文数据,仍然改变不了新川诏夫(Norio Niikawa)教授论文的论点,突变地点(538G → A)是东北亚,然后扩散到世界各地。
英语中的东北亚,有时候包括长江以北。我有次看dnatree,它把CHB也算进了NEA
O3a3c* (M134+, M117-)
英文中的nea 通常是中日韩三国 对标sea 又细分成continent SEA和sea SEA
天朝人类学=粪坑
英文中的nea 通常是中日韩三国 对标sea 又细分成continent SEA和sea SEA
joy 发表于 2018-1-12 15:30
有的文章东亚就NEA和SEA。怀疑他们将华南汉也算成SEA。
O3a3c* (M134+, M117-)
https://www.ncbi.nlm.nih.gov/pubmed/20937735

Mol Biol Evol. 2011 Jan;28(1):849-57. doi: 10.1093/molbev/msq264. Epub 2010 Oct 11.
The impact of natural selection on an ABCC11 SNP determining earwax type.
Ohashi J1, Naka I, Tsuchiya N.

Abstract:   A nonsynonymous single nucleotide polymorphism (SNP), rs17822931-G/A (538G>A; Gly180Arg), in the ABCC11 gene determines human earwax type (i.e., wet or dry) and is one of most differentiated nonsynonymous SNPs between East Asian and African populations. A recent genome-wide scan for positive selection revealed that a genomic region spanning ABCC11, LONP2, and SIAH1 genes has been subjected to a selective sweep in East Asians. Considering the potential functional significance as well as the population differentiation of SNPs located in that region, rs17822931 is the most plausible candidate polymorphism to have undergone geographically restricted positive selection. In this study, we estimated the selection intensity or selection coefficient of rs17822931-A in East Asians by analyzing two microsatellite loci flanking rs17822931 in the African (HapMap-YRI) and East Asian (HapMap-JPT and HapMap-CHB) populations. Assuming a recessive selection model, a coalescent-based simulation approach suggested that the selection coefficient of rs17822931-A had been approximately 0.01 in the East Asian population, and a simulation experiment using a pseudo-sampling variable revealed that the mutation of rs17822931-A occurred 2006 generations (95% credible interval, 1,023-3,901 generations) ago. In addition, we show that absolute latitude is significantly associated with the allele frequency of rs17822931-A in Asian, Native American, and European populations, implying that the selective advantage of rs17822931-A is related to an adaptation to a cold climate. Our results provide a striking example of how local adaptation has played a significant role in the diversification of human traits.

RS17822931-A突变,在欧洲,亚洲和美洲,干性都显示与纬度强烈正相关,这表明了现代人类扩散到高纬度地区之后对寒冷气候的适应。
这么多数据摆在本坛,还在继续扯淡,有意思吗?
物格而后知至,知至而后意诚,意诚而后心正,心正而后身修,身修而后家齐,家齐而后国治,国治而后天下平...
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