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Directionality Of Point Mutation And 5-Methylcytosine Deamination Rates In The Chimpanzee Genome, Cizhong Jiang, Zhongming Zhao

Psychiatry Publications

Background The pattern of point mutation is important for studying mutational mechanisms, genome evolution, and diseases. Previous studies of mutation direction were largely based on substitution data from a limited number of loci. To date, there is no genome-wide analysis of mutation direction or methylation-dependent transition rates in the chimpanzee or its categorized genomic regions.

Results In this study, we performed a detailed examination of mutation direction in the chimpanzee genome and its categorized genomic regions using 588,918 SNPs whose ancestral alleles could be inferred by mapping them to human genome sequences. The C→T (G→A) changes occurred most frequently in …

The Μ-Opioid Receptor Gene And Smoking Initiation And Nicotine Dependence, Lan Zhang, Kenneth S. Kendler, Xianging Chen

Psychiatry Publications

The gene encoding the mu-opioid receptor (OPRM1) is reported to be associated with a range of substance dependence. Experiments in knockout mice indicate that the mu-opioid receptor may mediate reinforcing effects of nicotine. In humans, opioid antagonist naltrexone may reduce the reinforcing effects of tobacco smoking. Additionally, the OPRM1 gene is located in a region showing linkage to nicotine dependence. The OPRM1 is thus a plausible candidate gene for smoking behavior. To investigate whether OPRM1 contributes to the susceptibility of smoking initiation and nicotine dependence, we genotyped 11 SNPs in the gene for 688 Caucasian subjects of lifetime smokers and …

A Novel Statistical Method To Estimate The Effective Snp Size In Vertebrate Genomes And Categorized Genomic Regions, Deakwan Seo, Cizhong Jiang, Zhongming Zhao

Psychiatry Publications

Background

The local environment of single nucleotide polymorphisms (SNPs) contains abundant genetic information for the study of mechanisms of mutation, genome evolution, and causes of diseases. Recent studies revealed that neighboring-nucleotide biases on SNPs were strong and the genome-wide bias patterns could be represented by a small subset of the total SNPs. It remains unsolved for the estimation of the effective SNP size, the number of SNPs that are sufficient to represent the bias patterns observed from the whole SNP data.

Results

To estimate the effective SNP size, we developed a novel statistical method, SNPKS, which considers both the statistical …