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3. Mitochondrial sequence variants: testing imputation accuracy and their association with dairy cattle milk traits.

Author

Dorji, Jigme, Chamberlain, Amanda J., Reich, Coralie M., VanderJagt, Christy J., Nguyen, Tuan V., Daetwyler, Hans D., and MacLeod, Iona M.

Subjects
MITOCHONDRIAL DNA, PEARSON correlation (Statistics), SINGLE nucleotide polymorphisms, GENOME-wide association studies, DAIRY cattle
Abstract

Background: Mitochondrial genomes differ from the nuclear genome and in humans it is known that mitochondrial variants contribute to genetic disorders. Prior to genomics, some livestock studies assessed the role of the mitochondrial genome but these were limited and inconclusive. Modern genome sequencing provides an opportunity to re-evaluate the potential impact of mitochondrial variation on livestock traits. This study first evaluated the empirical accuracy of mitochondrial sequence imputation and then used real and imputed mitochondrial sequence genotypes to study the role of mitochondrial variants on milk production traits of dairy cattle. Results: The empirical accuracy of imputation from Single Nucleotide Polymorphism (SNP) panels to mitochondrial sequence genotypes was assessed in 516 test animals of Holstein, Jersey and Red breeds using Beagle software and a sequence reference of 1883 animals. The overall accuracy estimated as the Pearson's correlation squared (R2) between all imputed and real genotypes across all animals was 0.454. The low accuracy was attributed partly to the majority of variants having low minor allele frequency (MAF < 0.005) but also due to variants in the hypervariable D-loop region showing poor imputation accuracy. Beagle software provides an internal estimate of imputation accuracy (DR2), and 10 percent of the total 1927 imputed positions showed DR2 greater than 0.9 (N = 201). There were 151 sites with empirical R2 > 0.9 (of 954 variants segregating in the test animals) and 138 of these overlapped the sites with DR2 > 0.9. This suggests that the DR2 statistic is a reasonable proxy to select sites that are imputed with higher accuracy for downstream analyses. Accordingly, in the second part of the study mitochondrial sequence variants were imputed from real mitochondrial SNP panel genotypes of 9515 Australian Holstein, Jersey and Red dairy cattle. Then, using only sites with DR2 > 0.900 and real genotypes, we undertook a genome-wide association study (GWAS) for milk, fat and protein yields. The GWAS mitochondrial SNP effects were not significant. Conclusion: The accuracy of imputation of mitochondrial genotypes from the SNP panel to sequence was generally low. The Beagle DR2 statistic enabled selection of sites imputed with higher empirical accuracy. We recommend building larger reference populations with mitochondrial sequence to improve the accuracy of imputing less common variants and ensuring that SNP panels include common variants in the D-loop region. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Additional file 2 of Expression quantitative trait loci in sheep liver and muscle contribute to variations in meat traits

Author

Zehu Yuan, Bolormaa Sunduimijid, Ruidong Xiang, Behrendt, Ralph, Knight, Matthew I., Mason, Brett A., Reich, Coralie M., Prowse-Wilkins, Claire, Jagt, Christy J. Vander, Chamberlain, Amanda J., MacLeod, Iona M., Li, Fadi, Xiangpeng Yue, and Daetwyler, Hans D.

Abstract

Additional file 2: Table S1. STAR parameters used for alignment.

Published
2021
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10. Additional file 4 of Expression quantitative trait loci in sheep liver and muscle contribute to variations in meat traits

Author

Zehu Yuan, Bolormaa Sunduimijid, Ruidong Xiang, Behrendt, Ralph, Knight, Matthew I., Mason, Brett A., Reich, Coralie M., Prowse-Wilkins, Claire, Jagt, Christy J. Vander, Chamberlain, Amanda J., MacLeod, Iona M., Li, Fadi, Xiangpeng Yue, and Daetwyler, Hans D.

Abstract

Additional file 4: Table S2. RNA-seq library information. Mean, minimum, maximum and median values of the number of read pairs that pass trimming and filtering (clean reads), and are uniquely mapped reads, and the proportion of clean reads that map uniquely to the genome in liver and muscle samples. The distribution of the proportion of clean reads that are uniquely mapped in liver and muscle samples is also shown.

Published
2021
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11. Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 for Horn Patterning in Bovidae

Author

Allais-Bonnet, Aurélie, Hintermann, Aurélie, Deloche, Marie-Christine, Cornette, Raphaël, Bardou, Philippe, Naval-Sanchez, Marina, Pinton, Alain, Haruda, Ashleigh, Grohs, Cécile, Zakany, Jozsef, Bigi, Daniele, Medugorac, Ivica, Putelat, Olivier, Greyvenstein, Ockert, Hadfield, Tracy, Jemaa, Slim Ben, Bunevski, Gjoko, Menzi, Fiona, Hirter, Nathalie, Paris, Julia M, Hedges, John, Palhiere, Isabelle, Rupp, Rachel, Lenstra, Johannes A, Gidney, Louisa, Lesur, Joséphine, Schafberg, Renate, Stache, Michael, Wandhammer, Marie-Dominique, Arbogast, Rose-Marie, Guintard, Claude, Blin, Amandine, Boukadiri, Abdelhak, Rivière, Julie, Esquerré, Diane, Donnadieu, Cécile, Danchin-Burge, Coralie, Reich, Coralie M, Riley, David G, van Marle-Koster, Este, Cockett, Noelle, Hayes, Benjamin J, Drögemüller, Cord, Kijas, James, Pailhoux, Eric, Tosser-Klopp, Gwenola, Duboule, Denis, Capitan, Aurélien, Allais-Bonnet, Aurélie, Hintermann, Aurélie, Deloche, Marie-Christine, Cornette, Raphaël, Bardou, Philippe, Naval-Sanchez, Marina, Pinton, Alain, Haruda, Ashleigh, Grohs, Cécile, Zakany, Jozsef, Bigi, Daniele, Medugorac, Ivica, Putelat, Olivier, Greyvenstein, Ockert, Hadfield, Tracy, Jemaa, Slim Ben, Bunevski, Gjoko, Menzi, Fiona, Hirter, Nathalie, Paris, Julia M, Hedges, John, Palhiere, Isabelle, Rupp, Rachel, Lenstra, Johannes A, Gidney, Louisa, Lesur, Joséphine, Schafberg, Renate, Stache, Michael, Wandhammer, Marie-Dominique, Arbogast, Rose-Marie, Guintard, Claude, Blin, Amandine, Boukadiri, Abdelhak, Rivière, Julie, Esquerré, Diane, Donnadieu, Cécile, Danchin-Burge, Coralie, Reich, Coralie M, Riley, David G, van Marle-Koster, Este, Cockett, Noelle, Hayes, Benjamin J, Drögemüller, Cord, Kijas, James, Pailhoux, Eric, Tosser-Klopp, Gwenola, Duboule, Denis, and Capitan, Aurélien

Published
2021

12. Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 for Horn Patterning in Bovidae

Author

Allais-Bonnet, Aurélie, primary, Hintermann, Aurélie, additional, Deloche, Marie-Christine, additional, Cornette, Raphaël, additional, Bardou, Philippe, additional, Naval-Sanchez, Marina, additional, Pinton, Alain, additional, Haruda, Ashleigh, additional, Grohs, Cécile, additional, Zakany, Jozsef, additional, Bigi, Daniele, additional, Medugorac, Ivica, additional, Putelat, Olivier, additional, Greyvenstein, Ockert, additional, Hadfield, Tracy, additional, Jemaa, Slim Ben, additional, Bunevski, Gjoko, additional, Menzi, Fiona, additional, Hirter, Nathalie, additional, Paris, Julia M, additional, Hedges, John, additional, Palhiere, Isabelle, additional, Rupp, Rachel, additional, Lenstra, Johannes A, additional, Gidney, Louisa, additional, Lesur, Joséphine, additional, Schafberg, Renate, additional, Stache, Michael, additional, Wandhammer, Marie-Dominique, additional, Arbogast, Rose-Marie, additional, Guintard, Claude, additional, Blin, Amandine, additional, Boukadiri, Abdelhak, additional, Rivière, Julie, additional, Esquerré, Diane, additional, Donnadieu, Cécile, additional, Danchin-Burge, Coralie, additional, Reich, Coralie M, additional, Riley, David G, additional, Marle-Koster, Este van, additional, Cockett, Noelle, additional, Hayes, Benjamin J, additional, Drögemüller, Cord, additional, Kijas, James, additional, Pailhoux, Eric, additional, Tosser-Klopp, Gwenola, additional, Duboule, Denis, additional, and Capitan, Aurélien, additional

Published
2021
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13. Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 to Determine the Number and Topology of Horns in Bovidae

Author

Allais-Bonnet, Aurélie, primary, Hintermann, Aurélie, additional, Deloche, Marie-Christine, additional, Cornette, Raphaël, additional, Bardou, Philippe, additional, Naval-Sanchez, Marina, additional, Pinton, Alain, additional, Haruda, Ashleigh, additional, Grohs, Cécile, additional, Zakany, Jozsef, additional, Bigi, Daniele, additional, Medugorac, Ivica, additional, Putelat, Olivier, additional, Greyvenstein, Ockert, additional, Hadfield, Tracy, additional, Ben Jemaa, Slim, additional, Bunevski, Gjoko, additional, Menzi, Fiona, additional, Hirter, Nathalie, additional, Paris, Julia M., additional, Hedges, John, additional, Palhiere, Isabelle, additional, Rupp, Rachel, additional, Lenstra, Johannes A., additional, Gidney, Louisa, additional, Lesur, Joséphine, additional, Schafberg, Renate, additional, Stache, Michael, additional, Wandhammer, Marie-Dominique, additional, Arbogast, Rose-Marie, additional, Guintard, Claude, additional, Blin, Amandine, additional, Boukadiri, Abdelhak, additional, Riviere, Julie, additional, Esquerré, Diane, additional, Donnadieu, Cécile, additional, Danchin-Burge, Coralie, additional, Reich, Coralie M, additional, Riley, David, additional, van Marle-Koster, Este, additional, Cockett, Noelle, additional, Hayes, Benjamin J., additional, Drögemüller, Cord, additional, Kijas, James, additional, Pailhoux, Eric, additional, Tosser-Klopp, Gwenola, additional, Duboule, Denis, additional, and Capitan, Aurélien, additional

Published
2020
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14. Expression of mitochondrial protein genes encoded by nuclear and mitochondrial genomes correlate with energy metabolism in dairy cattle

Author

Dorji, Jigme, primary, Jagt, Christy J. Vander, additional, Garner, Josie B., additional, Marett, Leah C., additional, Mason, Brett, additional, Reich, Coralie M., additional, Xiang, Ruidong, additional, Clark, Emily L., additional, Cocks, Benjamin G., additional, Chamberlain, Amanda J., additional, MacLeod, Iona M., additional, and Daetwyler, Hans D., additional

Published
2020
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15. Quantifying the contribution of sequence variants with regulatory and evolutionary significance to 34 bovine complex traits

Author

Xiang, Ruidong, primary, Van Den Berg, Irene, additional, MacLeod, Iona M., additional, Hayes, Benjamin J., additional, Prowse-Wilkins, Claire P., additional, Wang, Min, additional, Bolormaa, Sunduimijid, additional, Liu, Zhiqian, additional, Rochfort, Simone J., additional, Reich, Coralie M., additional, Mason, Brett A., additional, Vander Jagt, Christy J., additional, Daetwyler, Hans D., additional, Lund, Mogens S., additional, Chamberlain, Amanda J., additional, and Goddard, Michael E., additional

Published
2019
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16. Genome variants associated with RNA splicing variation in bovine are extensively shared between tissues

Author

Xiang, Ruidong, primary, Hayes, Ben J., additional, Jagt, Christy J. Vander, additional, MacLeod, Iona M., additional, Khansefid, Majid, additional, Bowman, Phil J., additional, Yuan, Zehu, additional, Prowse-Wilkins, Claire P., additional, Reich, Coralie M., additional, Mason, Brett A., additional, Garner, Josie B., additional, Marett, Leah C., additional, Chen, Yizhou, additional, Bolormaa, Sunduimijid, additional, Daetwyler, Hans D., additional, Chamberlain, Amanda J., additional, and Goddard, Michael E., additional

Published
2017
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18. Quantifying the contribution of sequence variants with regulatory and evolutionary significance to 34 bovine complex traits.

Author

Ruidong Xiang, van den Berg, Irene, MacLeod, Iona M., Hayes, Benjamin J., Prowse-Wilkins, Claire P., Min Wang, Bolormaa, Sunduimijid, Zhiqian Liu, Rochfort, Simone J., Reich, Coralie M., Mason, Brett A., Jagt, Christy J. Vander, Daetwyler, Hans D., Lund, Mogens S., Chamberlain, Amanda J., and Goddard, Michael E.

Subjects
GENE expression, GENETIC regulation, HERITABILITY, CATTLE, COWS
Abstract

Many genome variants shaping mammalian phenotype are hypothesized to regulate gene transcription and/or to be under selection. However, most of the evidence to support this hypothesis comes from human studies. Systematic evidence for regulatory and evolutionary signals contributing to complex traits in a different mammalian model is needed. Sequence variants associated with gene expression (expression quantitative trait loci [eQTLs]) and concentration of metabolites (metabolic quantitative trait loci [mQTLs]) and under histone-modification marks in several tissues were discovered from multiomics data of over 400 cattle. Variants under selection and evolutionary constraint were identified using genome databases of multiple species. These analyses defined 30 sets of variants, and for each set, we estimated the genetic variance the set explained across 34 complex traits in 11,923 bulls and 32,347 cows with 17,669,372 imputed variants. The per-variant trait heritability of these sets across traits was highly consistent (r > 0.94) between bulls and cows. Based on the per-variant heritability, conserved sites across 100 vertebrate species and mQTLs ranked the highest, followed by eQTLs, young variants, those under histone-modification marks, and selection signatures. From these results,we defined a Functional-And-Evolutionary Trait Heritability (FAETH) score indicating the functionality and predicted heritability of each variant. In additional 7,551 cattle, the high FAETH-ranking variants had significantly increased genetic variances and genomic prediction accuracies in 3 production traits compared to the low FAETH-ranking variants. The FAETH framework combines the information of gene regulation, evolution, and trait heritability to rank variants, and the publicly available FAETH data provide a set of biological priors for cattle genomic selection worldwide. [ABSTRACT FROM AUTHOR]

Published
2019
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21. Detection and validation of structural variations in bovine whole-genome sequence data.

Author

Long Chen, Chamberlain, Amanda J., Reich, Coralie M., Daetwyler, Hans D., and Hayes, Ben J.

Subjects
BOS, CATTLE genetics, GENOMES, SINGLE nucleotide polymorphisms, ANIMAL variation, ANIMAL mutation, GENETICS
Abstract

Background: Several examples of structural variation (SV) affecting phenotypic traits have been reported in cattle. Currently the identification of SV from whole-genome sequence data (WGS) suffers from a high false positive rate. Our aim was to construct a high quality set of SV calls in cattle using WGS data. First, we tested two SV detection programs, Breakdancer and Pindel, and the overlap of these methods, on simulated sequence data to determine their precision and sensitivity. We then identified population SV from WGS of 252 Holstein and 64 Jersey bulls based on the overlapping calls from the two programs. In addition, we validated an overlapped SV set in 28 twice-sequenced Holstein individuals, and in another two validated sets (one for each breed) that were transmitted from sire to son. We also tested whether highly conserved gene sets across eukaryotes and recently expanded gene families in bovine were depleted and enriched, respectively, for SV. Results: In empirical WGS data, 17,518 SV covering 27.36 Mb were found in the Holstein population and 4285 SV covering 8.74 Mb in the Jersey population, of which 4.62 Mb of SV overlapped between Holsteins and Jerseys. A total of 11,534 candidate SV covering 5.64 Mb were validated in the 28 twice-sequenced individuals, while 3.49 and 0.67 Mb of SV were validated from Holstein and Jersey sire-son transmission, respectively. Only eight of 237 core eukaryotic genes had at least a 50-bp overlap with an SV from our validated sets, suggesting that conserved genes are depleted for SV (p < 0.05). In addition, we observed that recently expanded gene families were significantly more associated with SV than other genes. Long interspersed nuclear elements-1 were enriched for deletions when compared to the rest of the genome (p = 0.0035). Conclusions: We reported SV from 252 Holstein and 64 Jersey individuals. A considerable proportion of Jersey population SV (53.5%) were also found in Holstein. In contrast, about 76.90% sire-son transmission validated SV were present in Jerseys and Holsteins. The enrichment of SV in expanding gene families suggests that SV can be a source of genetic variation for evolution. [ABSTRACT FROM AUTHOR]

Published
2017
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23. Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 for Horn Patterning in Bovidae

Author

Daniele Bigi, Fiona Menzi, Slim Ben Jemaa, Marie-Christine Deloche, Aurélien Capitan, Johannes A. Lenstra, Marina Naval-Sanchez, Ivica Medugorac, Nathalie Hirter, Gwenola Tosser-Klopp, Diane Esquerre, Coralie M. Reich, Julia M. Paris, Rose-Marie Arbogast, Amandine Blin, Abdelhak Boukadiri, Aurélie Hintermann, Julie Rivière, Denis Duboule, Raphaël Cornette, Cécile Donnadieu, Marie-Dominique Wandhammer, Gjoko Bunevski, Louisa Gidney, Michael Stache, Isabelle Palhiere, Renate Schafberg, James Kijas, Claude Guintard, Joséphine Lesur, Jozsef Zakany, Rachel Rupp, Noelle E. Cockett, John Hedges, Ashleigh Haruda, Philippe Bardou, Olivier Putelat, Tracy Hadfield, Alain Pinton, Ockert Greyvenstein, Aurélie Allais-Bonnet, Este Van Marle-Koster, Eric Pailhoux, Coralie Danchin-Burge, David G. Riley, Cécile Grohs, Benjamin J. Hayes, Cord Drögemüller, Allice, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Institut de Systématique, Evolution, Biodiversité (ISYEB ), Muséum national d'Histoire naturelle (MNHN)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles (UA), Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Commonwealth Scientific and Industrial Research Organisation [Canberra] (CSIRO), École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Martin-Luther-University Halle-Wittenberg, Génétique Animale et Biologie Intégrative (GABI), Université Paris-Saclay-AgroParisTech-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), University of Geneva [Switzerland], University of Bologna, Ludwig Maximilian University [Munich] (LMU), Archéologie d'Alsace, Archéologie et histoire ancienne : Méditerranée - Europe (ARCHIMEDE), Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Ministère de la Culture et de la Communication (MCC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Texas A&M University [College Station], Utah State University (USU), Université de Carthage - University of Carthage, Ss. Cyril and Methodius University in Skopje, University of Bern, Manx Text, Manx Loaghtan Sheep Breeders (MLSBG), Utrecht University [Utrecht], Rent a Peasant, Archéozoologie, archéobotanique : sociétés, pratiques et environnements (AASPE), Muséum national d'Histoire naturelle (MNHN)-Centre National de la Recherche Scientifique (CNRS), Musée Zoologique de Strasbourg, Ecole Nationale Vétérinaire, Agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Acquisition et Analyse de Données pour l'Histoire naturelle (2AD), MICrobiologie de l'ALImentation au Service de la Santé (MICALIS), AgroParisTech-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Génome et Transcriptome - Plateforme Génomique ( GeT-PlaGe), Plateforme Génome & Transcriptome (GET), Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut de l'élevage (IDELE), Agriculture Victoria (AgriBio), Tshwane University of Technology [Pretoria] (TUT), Queensland Alliance for Agriculture and Food Innovation (QAAFI), University of Queensland [Brisbane], CSIRO Agriculture and Food (CSIRO), Ecole Polytechnique Fédérale de Lausanne (EPFL), Collège de France (CdF (institution)), Allais-Bonnet, Aurélie, Hintermann, Aurélie, Deloche, Marie-Christine, Cornette, Raphaël, Bardou, Philippe, Naval-Sanchez, Marina, Pinton, Alain, Haruda, Ashleigh, Grohs, Cécile, Zakany, Jozsef, Bigi, Daniele, Medugorac, Ivica, Putelat, Olivier, Greyvenstein, Ockert, Hadfield, Tracy, Jemaa, Slim Ben, Bunevski, Gjoko, Menzi, Fiona, Hirter, Nathalie, Paris, Julia M, Hedges, John, Palhiere, Isabelle, Rupp, Rachel, Lenstra, Johannes A, Gidney, Louisa, Lesur, Joséphine, Schafberg, Renate, Stache, Michael, Wandhammer, Marie-Dominique, Arbogast, Rose-Marie, Guintard, Claude, Blin, Amandine, Boukadiri, Abdelhak, Rivière, Julie, Esquerré, Diane, Donnadieu, Cécile, Danchin-Burge, Coralie, Reich, Coralie M, Riley, David G, Marle-Koster, Este van, Cockett, Noelle, Hayes, Benjamin J, Drögemüller, Cord, Kijas, Jame, Pailhoux, Eric, Tosser-Klopp, Gwenola, Duboule, Deni, Capitan, Aurélien, École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Ministère de la Culture et de la Communication (MCC)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Muséum national d'Histoire naturelle (MNHN), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Toulouse III - Paul Sabatier (UT3), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-École nationale supérieure agronomique de Toulouse [ENSAT], Université de Genève = University of Geneva (UNIGE), University of Bologna/Università di Bologna, Ss. Cyril and Methodius University in Skopje (UKIM), École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), and Collège de France - Chaire internationale Évolution des génomes et développement

Subjects
0106 biological sciences, Male, co-option, translocation, AcademicSubjects/SCI01180, regulatory mutation, 01 natural sciences, Hox genes, Hox gene, genes, 610 Medicine & health, Bilateria, time, Horns, 0303 health sciences, biology, Ecology, 630 Agriculture, Goats, [SDV.BDD.EO] Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, Gene Expression Regulation, Developmental, alignment, Morphogenetic field, Biological Evolution, [SDV.BDD.MOR] Life Sciences [q-bio]/Development Biology/Morphogenesis, 590 Animals (Zoology), Haploinsufficiency, transcription, Biometry, Evolution, growth, Locus (genetics), Mice, Transgenic, [SDV.GEN.GA] Life Sciences [q-bio]/Genetics/Animal genetics, 010603 evolutionary biology, 03 medical and health sciences, goat and sheep genomics, Behavior and Systematics, framework, Genetics, Animals, Allele, Gene, Molecular Biology, Discoveries, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Homeodomain Proteins, locus, Sheep, Horn (anatomy), AcademicSubjects/SCI01130, [SDV.BDD.MOR]Life Sciences [q-bio]/Development Biology/Morphogenesis, sequence, biology.organism_classification, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, Evolutionary biology, Mutation, genome-wide association, 570 Life sciences, goat and sheep genomic
Abstract

In the course of evolution, pecorans (i.e., higher ruminants) developed a remarkable diversity of osseous cranial appendages, collectively referred to as “headgear,” which likely share the same origin and genetic basis. However, the nature and function of the genetic determinants underlying their number and position remain elusive. Jacob and other rare populations of sheep and goats are characterized by polyceraty, the presence of more than two horns. Here, we characterize distinct POLYCERATE alleles in each species, both associated with defective HOXD1 function. We show that haploinsufficiency at this locus results in the splitting of horn bud primordia, likely following the abnormal extension of an initial morphogenetic field. These results highlight the key role played by this gene in headgear patterning and illustrate the evolutionary co-option of a gene involved in the early development of bilateria to properly fix the position and number of these distinctive organs of Bovidae.

Published
2021
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24. Evolution of Pinnipedia lactation strategies: a potential role for alpha-lactalbumin?

Author

Reich CM and Arnould JP

Subjects
Amino Acid Sequence, Animals, Base Sequence, Biological Evolution, Caniformia genetics, Molecular Sequence Data, Caniformia physiology, Lactalbumin genetics, Lactation
Abstract

Despite the considerable variation in milk composition found among mammals, a constituent common across all groups is lactose, the main sugar and osmole in most eutherians milk. Exceptions to this are the families Otariidae (fur seals and sea lions) and Odobenidae (walruses), where lactose has not been detected. We investigated the molecular basis for this by cloning alpha-lactalbumin, the modifier protein of the lactose synthase complex. A mutation was observed which, in addition to preventing lactose production, may enable otariids to maintain lactation despite the extremely long inter-suckling intervals during the mother's time at sea foraging (more than 23 days in some species).

Published
2007
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