Dataset Information

No Distinction of Orthology/Paralogy between Human and Chimpanzee Rh Blood Group Genes.

ABSTRACT: On human (Homo sapiens) chromosome 1, there is a tandem duplication encompassing Rh blood group genes (Hosa_RHD and Hosa_RHCE). This duplication occurred in the common ancestor of humans, chimpanzees (Pan troglodytes), and gorillas, after splitting from their common ancestor with orangutans. Although several studies have been conducted on ape Rh blood group genes, the clear genome structures of the gene clusters remain unknown. Here, we determined the genome structure of the gene cluster of chimpanzee Rh genes by sequencing five BAC (Bacterial Artificial Chromosome) clones derived from chimpanzees. We characterized three complete loci (Patr_RHα, Patr_RHβ, and Patr_RHγ). In the Patr_RHβ locus, a short version of the gene, which lacked the middle part containing exons 4-8, was observed. The Patr_RHα and Patr_RHβ genes were located on the locations corresponding to Hosa_RHD and Hosa_RHCE, respectively, and Patr_RHγ was in the immediate vicinity of Patr_RHβ. Sequence comparisons revealed high sequence similarity between Patr_RHβ and Hosa_RHCE, while the chimpanzee Rh gene closest to Hosa_RHD was not Patr_RHα but rather Patr_RHγ. The results suggest that rearrangements and gene conversions frequently occurred between these genes and that the classic orthology/paralogy dichotomy no longer holds between human and chimpanzee Rh blood group genes.

SUBMITTER: Kitano T

PROVIDER: S-EPMC4824203 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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No Distinction of Orthology/Paralogy between Human and Chimpanzee Rh Blood Group Genes.

Kitano Takashi T Kim Choong-Gon CG Blancher Antoine A Saitou Naruya N

Genome biology and evolution 20160212 3

On human (Homo sapiens) chromosome 1, there is a tandem duplication encompassing Rh blood group genes (Hosa_RHD and Hosa_RHCE). This duplication occurred in the common ancestor of humans, chimpanzees (Pan troglodytes), and gorillas, after splitting from their common ancestor with orangutans. Although several studies have been conducted on ape Rh blood group genes, the clear genome structures of the gene clusters remain unknown. Here, we determined the genome structure of the gene cluster of chim ...[more]

PMID: 26872772

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Project description:Accurate predictions of orthology and paralogy relationships are necessary to infer human molecular function from experiments in model organisms. Previous genome-scale approaches to predicting these relationships have been limited by their use of protein similarity and their failure to take into account multiple splicing events and gene prediction errors. We have developed PhyOP, a new phylogenetic orthology prediction pipeline based on synonymous rate estimates, which accurately predicts orthology and paralogy relationships for transcripts, genes, exons, or genomic segments between closely related genomes. We were able to identify orthologue relationships to human genes for 93% of all dog genes from Ensembl. Among 1:1 orthologues, the alignments covered a median of 97.4% of protein sequences, and 92% of orthologues shared essentially identical gene structures. PhyOP accurately recapitulated genomic maps of conserved synteny. Benchmarking against predictions from Ensembl and Inparanoid showed that PhyOP is more accurate, especially in its predictions of paralogy. Nearly half (46%) of PhyOP paralogy predictions are unique. Using PhyOP to investigate orthologues and paralogues in the human and dog genomes, we found that the human assembly contains 3-fold more gene duplications than the dog. Species-specific duplicate genes, or "in-paralogues," are generally shorter and have fewer exons than 1:1 orthologues, which is consistent with selective constraints and mutation biases based on the sizes of duplicated genes. In-paralogues have experienced elevated amino acid and synonymous nucleotide substitution rates. Duplicates possess similar biological functions for either the dog or human lineages. Having accounted for 2,954 likely pseudogenes and gene fragments, and after separating 346 erroneously merged genes, we estimated that the human genome encodes a minimum of 19,700 protein-coding genes, similar to the gene count of nematode worms. PhyOP is a fast and robust approach to orthology prediction that will be applicable to whole genomes from multiple closely related species. PhyOP will be particularly useful in predicting orthology for mammalian genomes that have been incompletely sequenced, and for large families of rapidly duplicating genes.

Project description:The evolutionary history of variation in the human Rh blood group system, determined by variants in the RHD and RHCE genes, has long been an unresolved puzzle in human genetics. Prior to medical treatments and interventions developed in the last century, the D-positive (RhD positive) children of D-negative (RhD negative) women were at risk for hemolytic disease of the newborn, if the mother produced anti-D antibodies following sensitization to the blood of a previous D-positive child. Given the deleterious fitness consequences of this disease, the appreciable frequencies in European populations of the responsible RHD gene deletion variant (for example, 0.43 in our study) seem surprising. In this study, we used new molecular and genomic data generated from four HapMap population samples to test the idea that positive selection for an as-of-yet unknown fitness benefit of the RHD deletion may have offset the otherwise negative fitness effects of hemolytic disease of the newborn. We found no evidence that positive natural selection affected the frequency of the RHD deletion. Thus, the initial rise to intermediate frequency of the RHD deletion in European populations may simply be explained by genetic drift/founder effect, or by an older or more complex sweep that we are insufficiently powered to detect. However, our simulations recapitulate previous findings that selection on the RHD deletion is frequency dependent and weak or absent near 0.5. Therefore, once such a frequency was achieved, it could have been maintained by a relatively small amount of genetic drift. We unexpectedly observed evidence for positive selection on the C allele of RHCE in non-African populations (on chromosomes with intact copies of the RHD gene) in the form of an unusually high F( ST ) value and the high frequency of a single haplotype carrying the C allele. RhCE function is not well understood, but the C/c antigenic variant is clinically relevant and can result in hemolytic disease of the newborn, albeit much less commonly and severely than that related to the D-negative blood type. Therefore, the potential fitness benefits of the RHCE C allele are currently unknown but merit further exploration.

Project description:BackgroundPrevious studies have reported that the susceptibility to coronavirus disease 2019 (COVID-19) is related to ABO blood group, but the relationship with Rh phenotype and MN blood group is unknown. China had adopted a strict control policy on COVID-19 until December 5, 2022, when local communities were liberalized. Therefore, we aimed to explore the correlation between ABO blood group, Rh phenotype, MN blood group and susceptibility to COVID-19 based on the time sequence of infection during the pandemic.MethodsA total of 870 patients who were routinely hospitalized in Ningbo Medical Center Lihuili Hospital from March 1, 2023 to March 31, 2023 were randomly selected to enroll in this study. Patients were divided into susceptible group and non-susceptible group, according to the time of their previous infection. The demographics and clinical information of the enrolled participants were collected from electronic medical records. The association of ABO blood group, Rh phenotype and MN blood group with susceptibility to COVID-19 was analyzed.ResultsA total of 650 cases (74.7%) had been infected with COVID-19, with 157 cases (18.0%) in the second week and 252 cases (29.0%) in the third week, reaching the peak of infection. Compared with the non-susceptible group, the susceptible group had no statistically significant differences in ABO blood group and Rh phenotype, but the proportion of N+ was higher (75.6% vs 68.9%, P = 0.030) and the proportion of MM was lower (24.4% vs 31.1%, P = 0.030). Consistent with this, ABO blood group and Rh phenotype were not significantly associated with susceptibility to COVID-19 (P>0.05), while N+ and MM were associated with susceptibility to COVID-19 (OR: 1.432, 95% confidence interval [CI]: 1.049, 1.954, P = 0.024; OR: 0.698, 95% CI: 0.512, 0.953, P = 0.024, respectively), after adjusting for age, sex, BMI, basic disease, and vaccination status in multivariate logistic regression analysis.ConclusionOur study showed that ABO blood group and Rh phenotype may not be related to the susceptibility to COVID-19, but MN blood group may be associated with the susceptibility to COVID-19.

Dataset Information

No Distinction of Orthology/Paralogy between Human and Chimpanzee Rh Blood Group Genes.

Publications

No Distinction of Orthology/Paralogy between Human and Chimpanzee Rh Blood Group Genes.

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