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Biology subjects

Shi Huang

Publications and source records attributed to Shi Huang.

3 recordsLinked to original sources

Han Chinese males with surnames related to the legendary Huang and Yan Emperors are enriched for the top two Neolithic super-grandfather Y chromosomes O3a2c1a and O3a1c, respectively

Recent studies found three Neolithic super-grandfather Y haplotypes among Han Chinese, consistent with the legend of Yan and Huang Emperors. Individuals of royal and noble ancestry or high social economic status (SES) are known to practice assortative mating and consanguineous marriages, which can produce offspring of both higher and lower than average fitness. However, the roles of the super-grandfather Y haplotypes and their descendant lines in history, fitness, and the male biased autism spectrum disorder (ASD) remain unknown. Here we show a link between the super-grandfathers and the legend of Yan-Huang Emperors and between their descendant haplotypes and ASD. We found that subjects carrying the O3a1c and O3a2c1a super-grandfather haplotypes were enriched with Yan and Huang related surnames, respectively, in two independent datasets of 1564 and 772 male Han subjects. We identified high and low SES descendant haplotypes of the super-grandfathers using the Han dataset of the 1000 genomes project based on two criteria: more descendant branches and fewer mutations before star-like expansions. By genotyping 505 fathers of ASD affected male children from the Autism Clinical and Genetic Resources in China with surnames either closely related to Huang (Ying group) or less related (Ji group), we found the high SES haplotypes within the O3a2c1a clade at [~]2 fold lower (odds ratio 2.05, 95% CI 1.28-3.26, P=0.0026) while the low SES haplotypes at [~]2 fold higher frequency (odds ratio 1.92, 95% CI 1.01-3.64, P = 0.046) in the fathers relative to 505 normal subjects. The fraction of low SES haplotypes was greater than that of high SES in ASD fathers of the Ying group, in contrast to Ying controls or the Ji fathers and Ji controls. Consistently, analysis of 2366 ASD affected children showed higher male to female ratio for Ying versus Ji group (6.52 +/-1.11 v 4.59 +/-0.41, P = 0.028, one tailed). These results provide evidence for the Yan-Huang legend and suggest a role for Y in ASD.

Genetics

Close genetic relationships between a spousal pair with autism-affected children and high minor allele content in cases in autism-associated SNPs

Parents of children affected with autism spectrum disorders (ASD) often have mild forms of autistic-like characteristics. Past studies have focused on searching for individual genetic risk loci of ASD. Here we studied the overall properties of the genomes of ASD trios by using previously published genome-wide data for common SNPs. The pairwise genetic distance (PGD) between a spousal pair with ASD-affected children was found smaller than that of a random pair selected among the spouses in the ASD trios, and spousal relatedness correlated with severe forms of ASD. Furthermore, for a set of 970 ASD associated SNPs, cases showed higher homozygous minor allele content than parents. These results indicate new genetic elements in the broad phenotypes of parents with ASD-affected offspring and in ASD pathogenesis.\n\nHighlightsO_LIThe overall properties of the genomes of ASD trios show ASD specific features.\nC_LIO_LIA spousal pair with ASD-affected children showed smaller genetic distance than that of a randomly selected pair among the spouses in the ASD trios.\nC_LIO_LIMinor allele contents in ASD-associated SNPs in ASD cases were greater than those in the parents of cases.\nC_LI

Genomics

The Genetic Equidistance Phenomenon at the Proteomic Level

The field of molecular evolution started with the alignment of a few protein sequences in the early 1960s. Among the first results found, the genetic equidistance result has turned out to be the most unexpected. It directly inspired the ad hoc universal molecular clock hypothesis that in turn inspired the neutral theory. Unfortunately, however, what is only a maximum distance phenomenon was mistakenly transformed into a mutation rate phenomenon and became known as such. Previous work studied a small set of selected proteins. We have performed proteome wide studies of 7 different sets of proteomes involving a total of 15 species. All 7 sets showed that within each set of 3 species the least complex species is approximately equidistant in average proteome wide identity to the two more complex ones. Thus, the genetic equidis-tance result is a universal phenomenon of maximum distance. There is a reality of constant albeit stepwise or discontinuous increase in complexity during evolution, the rate of which is what the original molecular clock hypothesis is really about. These results provide additional lines of evidence for the recently proposed maximum genetic diversity (MGD) hypothesis.\n\nAvailability and implementationThe source code repository is publicly available at https://github.com/Sephiroth1st/EquidistanceScript\n\nContacthuangshi@sklmg.edu.cn\n\nSupplementary informationSupplementary data are available online.

Evolutionary Biology