7/30/2023 0 Comments B negative blood type originWe inferred the ABO alleles according to the functional approach developed by for pure and chimeric A-B transferase cDNAs. While doing so, we paid specific attention to the following five points. from the initiation ATG to the stop codons), in search for additional variation from hg19 ( S3 Table, S1 File). Second, we browsed all exomes regions within the coding bounds (i.e. First, we first gathered the genotypes at the key functional changes with depth, allele counts, quality and Phred scores probability using vcftools ( S2 Table, S1 File). Then, we briefly proceeded in a two-step screening of the blood group loci. Briefly, the filters included a coverage filter stratified by GC content, minimum coverage of 10, Heng Li’s Mappability 35, Mapping Quality (MQ) of 25, no tandem repeats and no indels. For genotype calling filters, see the Supplementary Information of and the readme files at. For that purpose, we investigated the high-quality nuclear genomes previously published from three Neanderthals one Denisovan.Įxploration procedure for blood group allelesįor the probands and blood groups under study, we downloaded the already published and curated *.vcf and *.bam(.bai) chromosome files available at the Genome Projects website of the Max Planck Department of Evolutionary Genetics (, S1 Table). In the present study, we analyze Neanderthal and Denisovan blood groups in order to trace back the current human diversity and to discuss health aspects and vulnerabilities of archaic populations. Curiously, despite their significance and the amount of available genotypic data on modern Humans that is continuously accumulating, almost no attention has been paid to these major red cell blood polymorphisms in palaeogenetic studies. In transfusion, it is routine practice to scrutinize six blood groups: ABO, Rh, Kell, Duffy, Kidd and MNS (reviewed in ). ![]() To date, the International Society of Blood Transfusion (retrieved from the ISBT website, ) has recorded more than 380 blood group specificities grouped into 40 systems. Red cell blood groups are also crucial in medicine to ensure transfusion safety, transplants, and foeto-maternal compatibility. Phenotype and genotype geographical distribution mirrors past human migrations and natural selection and comparison with primates makes it possible to evoke their evolutionary and migration trajectory with accuracy. Red cell blood groups are powerful anthropological markers. In addition, the availability of Neanderthal and Denisova DNA sequences provides a phylogenetic status and chronological depth that have significantly enhanced the understanding of gene variation in modern humans for phenotype, metabolic, and immune traits (reviewed in ). It reveals population structure, several demographic fluctuations and gene flows across hominin populations, worldwide dispersal of archaic genes by admixed Homo sapiens, and even the existence of a super-archaic ‘ghost’ population. Over the last decade, technological progress has allowed generation of data from the entire genome of some fifteen extinct Neanderthal and Denisova hominins who lived 40,000 to 100,000 years ago from Western Europe to Siberia. While contributing to both the origin and late evolutionary history of Neanderthal and Denisova, our results further illustrate that blood group systems are a relevant piece of the puzzle helping to decipher it. Lastly, we connect a Neanderthal RHD allele to two present-day Aboriginal Australian and Papuan, suggesting that a segment of archaic genome was introgressed in this gene in non-Eurasian populations. Such a common blood group pattern across time and space is coherent with a Neanderthal population of low genetic diversity exposed to low reproductive success and with their inevitable demise. Furthermore, we found ABO-related alleles currently preventing from viral gut infection and Neanderthal RHD and RHCE alleles nowadays associated with a high risk of hemolytic disease of the fetus and newborn. We show that Neanderthal and Denisova were polymorphic for ABO and shared blood group alleles recurrent in modern Sub-Saharan populations. Here we analyze the available high-quality sequences of three Neanderthals and one Denisovan individuals for 7 blood group systems that are used today in transfusion (ABO including H/Se, Rh (Rhesus), Kell, Duffy, Kidd, MNS, Diego). Thus, despite the finer mapping of the modern human genome in relation to Neanderthal and Denisova populations, little is known about red cell blood groups in these archaic populations. The recent emergence of new technologies based on the decoding of nucleic acids from an individual’s entire genome has relegated them to their primary application, blood transfusion. Blood group systems were the first phenotypic markers used in anthropology to decipher the origin of populations, their migratory movements, and their admixture.
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