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| 1 | Genome-wide variants of Eurasian facial shape differentiation and a prospective model of DNA based face prediction显示文摘It is a long-standing question as to which genes define the characteristic facial features among different ethnic groups. In this study, we use Uyghurs, an ancient admixed population to query the genetic bases why Europeans and Han Chinese look different. Facial traits were analyzed based on high-dense 3D facial images; numerous biometric spaces were examined for divergent facial features between European and Han Chinese, ranging from inter-landmark distances to dense shape geometrics. Genome-wide association studies(GWAS) were conducted on a discovery panel of Uyghurs. Six significant loci were identified, four of which, rs1868752, rs118078182, rs60159418 at or near UBASH3B, COL23A1, PCDH7 and rs17868256 were replicated in independent cohorts of Uyghurs or Southern Han Chinese. A prospective model was also developed to predict 3D faces based on top GWAS signals and tested in hypothetic forensic scenarios. | Lu Qiao Yajun Yang Pengcheng Fu Sile Hu Hang Zhou Shouneng Peng Jingze Tan Yan Lu Haiyi Lou Dongsheng Lu Sijie Wu Jing Guo Li Jin Yaqun Guan Sijia Wang Shuhua Xu Kun Tang | 2018 | Journal of Genetics and Genomics2018，45，8： | 7 |
| 2 | Large-scale genome-wide scans do not support petaloid toenail as a Mendelian trait显示文摘Petaloid toenail,or accessory nail of the fifth toe,is a physical trait characterized by the presence of an additional tiny toenail on the small toe.Since it can occasionally cause disfigurement and tenderness while wearing tight shoes or walking,standard surgical matricectomy is often carried out to repair the petaloid toenail(Chi and Wang,2004).Chinese legends recorded petaloid | Manfei Zhang Sijie Wu Juan Zhang Yajun Yang Jingze Tan Haijuan Guan Yu Liu Kun Tang Jean Krutmann Shuhua Xu Li Jin Yaqun Guan Hui Li Sijia Wang | 2016 | Journal of Genetics and Genomics2016，43，12： | 2 |
| 3 | Characteristics of dental morphology in the Xinjiang Uyghurs and correlation with the EDARV370A variant显示文摘Teeth are one of the most important materials for anthropological studies because they are likely to be preserved in ancient remains.While the frequencies of dental characteristics can provide clues to the phylogeny of populations,genetic studies at the individual level can further reveal the biological mechanisms and evolutionary context of dental characteristics.In this study,by analyzing 38 dental characteristics of 242 Xinjiang Uyghur individuals,we found that(i)the dental characteristics of the Uyghurs showed evidence of admixture between European and East Asian populations.The admixture proportions were in line with those previously reported in population genetic studies;(ii)the Xinjiang Uyghur dental characteristics formed three clusters in pairwise correlation analysis.One of the main clusters consisted of characteristics including incisor shoveling,double shoveling and mesial ridge;and(iii)all the characteristics in this cluster were significantly correlated with the genetic variant EDARV370A.The extracted composite phenotypic factor was also significantly associated with EDARV370A,which explained 18%of the total phenotypic variance.This indicated a pleiotropic effect,i.e.,the same genetic factor affects a number of dental characteristics at the same time.Our results confirmed that EDARV370A,a genetic variant that first originated in East Asia about 30000 years ago,played an important role in incisor shoveling in East Asia.This finding suggested that incisor shoveling in modern humans in East Asia is likely to have appeared after the late Pleistocene. | TAN JingZe PENG QianQian LI JinXi GUAN YaQun ZHANG LiPing JIAO Yi YANG YaJun WANG SiJia JIN Li | 2014 | Science China(Life Sciences)2014，57，5： | 2 |
| 4 | Genomic diversity and post-admixture adaptation in the Uyghurs显示文摘Population admixture results in genome-wide combinations of genetic variants derived from different ancestral populations of distinct ancestry, thus providing a unique opportunity for understanding the genetic determinants of phenotypic variation in humans. Here, we used whole-genome sequencing of 92 individuals with high coverage(30–60×) to systematically investigate genomic diversity in the Uyghurs living in Xinjiang, China(XJU), an admixed population of both European-like and East-Asian-like ancestry.The XJU population shows greater genetic diversity, especially a higher proportion of rare variants,compared with their ancestral source populations, corresponding to greater phenotypic diversity of XJU.Admixture-induced functional variants in EDAR were associated with the diversity of facial morphology in XJU. Interestingly, the interaction of functional variants between SLC24A5 and OCA2 likely influences the diversity of skin pigmentation. Notably, selection has seemingly been relaxed or canceled in several genes with significantly biased ancestry, such as HERC2–OCA2. Moreover, signatures of post-admixture adaptation in XJU were identified, including genes related to metabolism(e.g. CYP2D6), digestion(e.g.COL11A1), olfactory perception(e.g. ANO2) and immunity(e.g. HLA). Our results demonstrated population admixture as a driving force, locally or globally, in shaping human genetic and phenotypic diversity as well as in adaptive evolution. | Yuwen Pan Chao Zhang Yan Lu Zhilin Ning Dongsheng Lu Yang Gao Xiaohan Zhao Yajun Yang Yaqun Guan Dolikun Mamatyusupu Shuhua Xu | 2022 | National Science Review2022，9，3： | 1 |
| 5 | Expression profiles of east–west highly differentiated genes in Uyghur genomes显示文摘It remains unknown and debatable how European-Asian–differentiated alleles affect individual phenotypes.Here,we made the first effort to analyze the expression profiles of highly differentiated genes with eastern and western origins in 90 Uyghurs using whole-genome(30×to 60×)and transcriptome data.We screened 921872 east–west highly differentiated genetic variants,of which~4.32%were expression quantitative trait loci(e QTLs),~0.12%were alternative splicing quantitative trait loci(s QTLs),and~0.12%showed allele-specific expression(ASE).The 8305 highly differentiated eQTLs of strong effects appear to have undergone natural selection,associated with immunity and metabolism.European-origin alleles tend to be more biasedly expressed;highly differentiated ASEs were enriched in diabetes-associated genes,likely affecting the diabetes susceptibility in the Uyghurs.We proposed an admixture-induced expression model to dissect the highly differentiated expression profiles.We provide new insights into the genetic basis of phenotypic differentiation between Western and Eastern populations,advancing our understanding of the impact of genetic admixture. | Zhilin Ning Xinjiang Tan Yuan Yuan Ke Huang Yuwen Pan Lei Tian Yan Lu Xiaoji Wang Ruicheng Qi Dongsheng Lu Yajun Yang Yaqun Guan Dolikun Mamatyusupu Shuhua Xu | 2023 | National Science Review2023，10，4： | 0 |
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