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Biology subjects

Li Jin

Publications and source records attributed to Li Jin.

4 recordsLinked to original sources

Detecting Genome-wide Variants of Eurasian Facial Shape Differentiation: DNA based Face Prediction Tested in Forensic Scenario

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 analyses 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.

Genetics

Signatures of personality on dense 3D facial images

It has long been speculated that there exist cues on human face that allow observersto make reliable judgments of otherspersonality traits. However, direct evidences ofassociation between facial shapes and personality are missing. This study assessed thepersonality attributes for 834 Han Chinese volunteers (405 males and 429 females) utilizing the five-factor personality model (the Big Five model), and collected their neutral 3D facial images. Dense anatomical correspondence was established across the 3D facial images to allow high-dimensional quantitative analyses on the face phenotypes. Two different approaches, Composite Partial Least Square Component(CPLSC) and principle component analysis (PCA) were used to test the associations between the self-testedpersonality scores and the dense 3D face image data. Among the fivepersonality factors, Agreeableness and Conscientiousness in male, and Extraversion in female were significantly associated to specific facial patterns. The personality-related facial patterns were extracted and their effects were extrapolated on simulated 3Dfacial models.

Bioinformatics

Investigating the Evolutionary Importance of Denisovan Introgressions in Papua New Guineans and Australians

Previous research reported that Papua New Guineans (PNG) and Australians contain introgressions from Denisovans. Here we present a genome-wide analysis of Denisovan introgressions in PNG and Australians. We firstly developed a two-phase method to detect Denisovan introgressions from whole-genome sequencing data. This method has relatively high detection power (79.74%) and low false positive rate (2.44%) based on simulations. Using this method, we identified 1.34 Gb of Denisovan introgressions from sixteen PNG and four Australian genomes, in which we identified 38,877 Denisovan introgressive alleles (DIAs). We found that 78 Denisovan introgressions were under positive selection. Genes located in the 78 introgressions are related to evolutionarily important functions, such as spermatogenesis, fertilization, cold acclimation, circadian rhythm, development of brain, neural tube, face, and olfactory pit, immunity, etc. We also found that 121 DIAs are missense. Genes harboring the 121 missense DIAs are also related to evolutionarily important functions, such as female pregnancy, development of face, lung, heart, skin, nervous system, and male gonad, visual and smell perception, response to heat, pain, hypoxia, and UV, lipid transport, metabolism, blood coagulation, wound healing, aging, etc. Taken together, this study suggests that Denisovan introgressions in PNG and Australians are evolutionarily important, and may help PNG and Australians in local adaptation. In this study, we also proposed a method that could efficiently identify archaic hominin introgressions in modern non-African genomes.

Genomics

A Chronological Atlas of Natural Selection in the Human Genome during the Past Half-million Years

The spatiotemporal distribution of recent human adaptation is a long standing question. We developed a new coalescent-based method that collectively assigned human genome regions to modes of neutrality or to positive, negative, or balancing selection. Most importantly, the selection times were estimated for all positive selection signals, which ranged over the last half million years, penetrating the emergence of anatomically modern human (AMH). These selection time estimates were further supported by analyses of the genome sequences from three ancient AMHs and the Neanderthals. A series of brain function-related genes were found to carry signals of ancient selective sweeps, which may have defined the evolution of cognitive abilities either before Neanderthal divergence or during the emergence of AMH. Particularly, signals of brain evolution in AMH are strongly related to Alzheimers disease pathways. In conclusion, this study reports a chronological atlas of natural selection in Human.

Evolutionary Biology