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author Celemín, Enrique
Gusev, Nikolai
Domínguez, Marisol
Havenstein, Katja
Berggren, Per
Heide-Jørgensen, Mads Peter
Lesage, Veronique
Lockyer, Christina
Pampoulie, Christophe
Pawliczka, Iwona
Roos, Anna
Siebert, Ursula
Sigurðsson, Guðjón Már
Öztürk, Ayaka Amaha
Öztürk, Bayram
Tiedemann, Ralph
author_facet Celemín, Enrique
Gusev, Nikolai
Domínguez, Marisol
Havenstein, Katja
Berggren, Per
Heide-Jørgensen, Mads Peter
Lesage, Veronique
Lockyer, Christina
Pampoulie, Christophe
Pawliczka, Iwona
Roos, Anna
Siebert, Ursula
Sigurðsson, Guðjón Már
Öztürk, Ayaka Amaha
Öztürk, Bayram
Tiedemann, Ralph
Celemín, Enrique
Gusev, Nikolai
Domínguez, Marisol
Havenstein, Katja
Berggren, Per
Heide-Jørgensen, Mads Peter
Lesage, Veronique
Lockyer, Christina
Pampoulie, Christophe
Pawliczka, Iwona
Roos, Anna
Siebert, Ursula
Sigurðsson, Guðjón Már
Öztürk, Ayaka Amaha
Öztürk, Bayram
Tiedemann, Ralph
collection PubMed - marine biology
contents Evolution and Organisation of MHC II Genes in Harbour Porpoises: Insights From Long-Read Cetacean Genome Assemblies, Whole Genome Re-Sequencing and Locus-Specific Genotyping. Celemín, Enrique Gusev, Nikolai Domínguez, Marisol Havenstein, Katja Berggren, Per Heide-Jørgensen, Mads Peter Lesage, Veronique Lockyer, Christina Pampoulie, Christophe Pawliczka, Iwona Roos, Anna Siebert, Ursula Sigurðsson, Guðjón Már Öztürk, Ayaka Amaha Öztürk, Bayram Tiedemann, Ralph Animals Phocoena Genome Evolution, Molecular Genotype Genes, MHC Class II Alleles Genetics, Population Whole Genome Sequencing Genetic Variation Endangered Species Phylogeny Selection, Genetic The Major Histocompatibility Complex (MHC) is a central element in the vertebrate immune system. While MHC genes are a common target of conservation genomic studies, it has been challenging to reliably amplify locus-specific alleles, which is especially problematic when studying endangered lineages, like some harbour porpoise (Phocoena phocoena) populations and subspecies. Here, we manually annotated all MHC II genes in the harbour porpoise genome and genotyped every exon 2 in 47 individuals (94 individuals for DRB1 and DQB genes) spanning six geographical regions, including the endangered Black Sea porpoise subspecies (Phocoena phocoena relicta) and the critically endangered Baltic proper population of the North Atlantic subspecies (P. p. phocoena). We performed gene-wise analyses of diversity and selection and put the results into perspective with 22 available harbour porpoise genomes. Furthermore, we characterised all MHC II genes in 19 available long-read genomes of cetaceans and terrestrial outgroups to study the MHC II evolution across the cetacean diversification. From the 10 MHC II loci annotated in the harbour porpoise genome, two (DRB1 and DQB) exhibited inflated allelic diversity and signatures of positive selection. Interestingly, DRB genes followed different evolutionary trajectories in mysticetes and odontocetes. Our results have significant conservation implications since we identified reduced MHC II diversity in the endangered Black Sea subspecies and provide a case study for reliable MHC II genotyping in other species. Further, our study demonstrates the need for long-read genomes to understand the genomic architecture of MHC and to accurately assess its diversity and evolution.
format Artículo científico
id pubmed_40551555
institution PubMed
language en
publishDate 2025
publisher Molecular ecology
record_format pubmed
spellingShingle Evolution and Organisation of MHC II Genes in Harbour Porpoises: Insights From Long-Read Cetacean Genome Assemblies, Whole Genome Re-Sequencing and Locus-Specific Genotyping.
Celemín, Enrique
Gusev, Nikolai
Domínguez, Marisol
Havenstein, Katja
Berggren, Per
Heide-Jørgensen, Mads Peter
Lesage, Veronique
Lockyer, Christina
Pampoulie, Christophe
Pawliczka, Iwona
Roos, Anna
Siebert, Ursula
Sigurðsson, Guðjón Már
Öztürk, Ayaka Amaha
Öztürk, Bayram
Tiedemann, Ralph
Animals
Phocoena
Genome
Evolution, Molecular
Genotype
Genes, MHC Class II
Alleles
Genetics, Population
Whole Genome Sequencing
Genetic Variation
Endangered Species
Phylogeny
Selection, Genetic
Evolution and Organisation of MHC II Genes in Harbour Porpoises: Insights From Long-Read Cetacean Genome Assemblies, Whole Genome Re-Sequencing and Locus-Specific Genotyping. Celemín, Enrique Gusev, Nikolai Domínguez, Marisol Havenstein, Katja Berggren, Per Heide-Jørgensen, Mads Peter Lesage, Veronique Lockyer, Christina Pampoulie, Christophe Pawliczka, Iwona Roos, Anna Siebert, Ursula Sigurðsson, Guðjón Már Öztürk, Ayaka Amaha Öztürk, Bayram Tiedemann, Ralph Animals Phocoena Genome Evolution, Molecular Genotype Genes, MHC Class II Alleles Genetics, Population Whole Genome Sequencing Genetic Variation Endangered Species Phylogeny Selection, Genetic The Major Histocompatibility Complex (MHC) is a central element in the vertebrate immune system. While MHC genes are a common target of conservation genomic studies, it has been challenging to reliably amplify locus-specific alleles, which is especially problematic when studying endangered lineages, like some harbour porpoise (Phocoena phocoena) populations and subspecies. Here, we manually annotated all MHC II genes in the harbour porpoise genome and genotyped every exon 2 in 47 individuals (94 individuals for DRB1 and DQB genes) spanning six geographical regions, including the endangered Black Sea porpoise subspecies (Phocoena phocoena relicta) and the critically endangered Baltic proper population of the North Atlantic subspecies (P. p. phocoena). We performed gene-wise analyses of diversity and selection and put the results into perspective with 22 available harbour porpoise genomes. Furthermore, we characterised all MHC II genes in 19 available long-read genomes of cetaceans and terrestrial outgroups to study the MHC II evolution across the cetacean diversification. From the 10 MHC II loci annotated in the harbour porpoise genome, two (DRB1 and DQB) exhibited inflated allelic diversity and signatures of positive selection. Interestingly, DRB genes followed different evolutionary trajectories in mysticetes and odontocetes. Our results have significant conservation implications since we identified reduced MHC II diversity in the endangered Black Sea subspecies and provide a case study for reliable MHC II genotyping in other species. Further, our study demonstrates the need for long-read genomes to understand the genomic architecture of MHC and to accurately assess its diversity and evolution.
title Evolution and Organisation of MHC II Genes in Harbour Porpoises: Insights From Long-Read Cetacean Genome Assemblies, Whole Genome Re-Sequencing and Locus-Specific Genotyping.
topic Animals
Phocoena
Genome
Evolution, Molecular
Genotype
Genes, MHC Class II
Alleles
Genetics, Population
Whole Genome Sequencing
Genetic Variation
Endangered Species
Phylogeny
Selection, Genetic
url https://pubmed.ncbi.nlm.nih.gov/40551555/