Chimpanzee nucleotide was identical to the human DM/disease-associated mutation, whereas

Chimpanzee nucleotide was identical to the human DM/disease-associated mutation, whereas both the Neanderthal nucleotide and the Denisovan nucleotide were identical to the modern human wild-type nucleotide. `Denisovan and chimpanzee’: Both the Denisovan nucleotide and the chimpanzee nucleotide were identical to the human DM/disease-associated mutation, whereas the Neanderthal nucleotide was identical to the human wild-type nucleotide; `Neanderthal and chimpanzee’: Both the Neanderthal nucleotide and the chimpanzee nucleotide were identical to the human DM/disease-associated mutation, whereas the Denisovan nucleotide was identical to the human wild-type nucleotide. Under coding sequence, `a/b’ means that there were a total number of `b’ mutations, of which `a’ were non-synonymous mutations (there were some synonymous mutations within the coding sequence; eg CM068190, CM077900). PCM, potentially compensated mutations; DM, disease-causing mutation; DP, disease-associated polymorphism with functional evidence; FP polymorphism with functional , evidence but lacking a reported disease association as yet; DFP, disease-associated polymorphism with functional evidence.# HENRY STEWART PUBLICATIONS 1479?7364. HUMAN GENOMICS. VOL 5. NO 5. 453 ?84 JULYPRIMARY RESEARCHZhang et al.Denisovan, Neanderthal or chimpanzee was logged in the HGMD as disease causing or disease associated in modern humans (Table 2). From the remaining 3,075,115 sites, we identified 117 sites for which the apparent wild-type nucleotide in the Denisovan or chimpanzee was logged in the HGMD as disease causing or disease associated in either the Denisovan or 4 chimpanzee (Table 3). Gene ontology (GO) enrichment analysis A 3-Bromo-4-(propan-2-yloxy)aniline hydrochloride3-Bromo-4-(propan-2-yloxy)aniline hydrochloride Abstract(s)”>PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/13485127 was performed using the DA VID bioinformatics tool.17 The statistical significance of a particular GO term was calculated using Fisher’s exact test, which was then adjusted to allow for multiple testing by means of the Benjamini ochberg correction.Table 3. HGMD-derived mutations identified as PCMs in the Denisovan genome and/or chimpanzee genome Mutation type and basis of disease aetiology PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/7780048 Mutation/ PCM state regulatory type Coding sequence Ancestral DM DP FP DFP TotalCalculation of Wright’s fixation index (FST) values The FST measures the proportion of genetic diversity in a subdivided population that is attributable to allele frequency differences between subpopulations. Pairwise FST values have also been used as a measure of genetic distance between populations. In this context, the allele frequencies of polymorphic ancestral PCMs in selected populations were obtained from HapMap (http://hapmap.ncbi. nlm.nih.gov/) and pairwise FST values were estimated for each polymorphism using the small sample estimate proposed by Weir and Hill.19 The significance of individual 2-(2,4-Dichloro-5-fluorophenyl)oxirane FST values was then assessed by reference to the empirical distribution of FST among all single nucleotide polymorphisms (SNPs) in HapMap.Results and discussionIdentification of PCMs in the Denisovan, Neanderthal and/or chimpanzee genomes A total of 44,348 missense mutations from 2,628 genes and 1,712 putative regulatory mutations from 807 genes, which have been recorded in the HGMD as being either causative of (or associated with) a human inherited disease state, were crosscompared with the corresponding nucleotide positions in the Neanderthal, Denisovan and chimpanzee genomes. When the 197 PCMs co.