Article
Genetics & Heredity
Carlos Hervas-Rivero, Houssemeddine Srihi, David Lopez-Carbonell, Joaquim Casellas, Noelia Ibanez-Escriche, Sara Negro, Luis Varona
Summary: This study conducted a genomic scan and identified eight genomic regions associated with inbreeding depression for litter size in two varieties of Iberian pigs. These regions contain relevant genes and suggest that the genetic determinism of inbreeding depression may be heterogeneous across the genome.
Article
Agriculture, Dairy & Animal Science
Xudong Wu, Ren Zhou, Yuanlang Wang, Wei Zhang, Xianrui Zheng, Guiying Zhao, Xiaodong Zhang, Zongjun Yin, Yueyun Ding
Summary: This study analyzed the genome of the local Chinese pig breed AQ pigs using resequencing technology and found that inbreeding levels were a concern and influenced by artificial selection. The study also identified genes related to immune biological processes in the ROH islands of AQ pigs.
Article
Agriculture, Dairy & Animal Science
Katherine D. Arias, Juan Pablo Gutierrez, Ivan Fernandez, Isabel Alvarez, Felix Goyache
Summary: In small populations where breeding policy prohibits mating between close relatives, parameters characterizing homozygosity may not accurately depict losses of variability. After base population adjustment, FROH and FHRR showed consistent performance. Assuming that an increase in homozygosity depends only on pedigree depth can lead to underestimating it in populations with shallow pedigrees.
GENETICS SELECTION EVOLUTION
(2023)
Article
Genetics & Heredity
Yifei Fang, Xinyu Hao, Zhong Xu, Hao Sun, Qingbo Zhao, Rui Cao, Zhe Zhang, Peipei Ma, Yanxiao Sun, Zengmin Qi, Qingkui Wei, Qishan Wang, Yuchun Pan
Summary: Through analyzing data from Genotyping by Genome Reducing and Sequencing, the study found a high level of inbreeding in Laiwu pigs and identified genes associated with economically important traits.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Chujie Chen, Bo Zhu, Xiangwei Tang, Bin Chen, Mei Liu, Ning Gao, Sheng Li, Jingjing Gu
Summary: By analyzing the patterns of genome-wide ROH, we found that both ancient and recent inbreeding events had varying degrees of impact on different horse breeds. However, recent inbreeding events were rare, especially among indigenous horse breeds. Therefore, the ROH-based genomic inbreeding coefficient can help monitor the level of inbreeding. Through our study on the Thoroughbred population, we identified 24 ROH islands containing 72 candidate genes associated with artificial selection traits. Our findings provide insight into horse breed characteristics and future breeding strategies.
Article
Genetics & Heredity
Zhong Xu, Shuqi Mei, Jiawei Zhou, Yu Zhang, Mu Qiao, Hua Sun, Zipeng Li, Lianghua Li, Binke Dong, Favour Oluwapelumi Oyelami, Junjing Wu, Xianwen Peng
Summary: The study assessed genetic diversity, runs of homozygosity (ROH) and ROH islands in a Chinese composite pig, identifying genes associated with fat deposition and muscular development in ROH islands. The findings shed light on the effects of environmental and artificial selection on genome structure of composite pigs, providing a basis for genomic selection (GS) and hybrid utilization of other pig breeds.
FRONTIERS IN GENETICS
(2021)
Article
Agriculture, Multidisciplinary
Shi-feng Tong, Zhu Mo, Xie Rui, Dong-feng Li, Li-fan Zhang, Liu Yang
Summary: This study investigated the genetic structure and inbreeding level of three indigenous pig breeds in the Chinese Taihu Basin. It found significant differences in genetic structure among the breeds and identified candidate genes associated with reproductive traits in regions with a high frequency of runs of homozygosity (ROH). These findings provide theoretical support for genetic conservation and improvement of these pig breeds.
JOURNAL OF INTEGRATIVE AGRICULTURE
(2022)
Article
Biochemistry & Molecular Biology
Laura Duntsch, Annabel Whibley, Patricia Brekke, John G. Ewen, Anna W. Santure
Summary: The study on hihi birds revealed that low-density data sets may lead to errors in estimating runs of homozygosity, while low-coverage resequencing and 50K SNP array densities can produce comparable inbreeding results. However, the accuracy of all data sets is heavily influenced by software settings, analysis parameters, and individual sequencing depth.
Article
Biotechnology & Applied Microbiology
Fuchen Zhou, Shenghui Wang, Haojun Qin, Haiyu Zeng, Jian Ye, Jie Yang, Gengyuan Cai, Zhenfang Wu, Zebin Zhang
Summary: The Genome-Wide Association Study analysis on 216 Duroc pigs identified nine significant SNPs associated with Aplasia cutis congenita (ACC). The study also revealed the presence of two quantitative trait loci on SSC 5 and SSC13. Further annotation of candidate genes within a 1 Mb region surrounding the significant SNPs identified a total of 11 candidate genes on SSC5 and SSC13.
Article
Genetics & Heredity
Draga Toncheva, Maria Marinova, Todor Chobanov, Dimitar Serbezov
Summary: Based on the analysis of ancient human genome data, the study found unusual aggregation of pathogenic mutations in some ancient individuals, which is extremely rare in contemporary populations. This aggregation may be explained by small population sizes and higher levels of inbreeding in ancient human groups. These results suggest that pathogenic variants associated with rare diseases might come from introgression from other archaic human species, and archaic admixture could have influenced disease risk in modern humans.
Article
Plant Sciences
Sara Palacio, Andreu Cera, Adrian Escudero, Arantzazu L. Luzuriaga, Ana M. Sanchez, Juan Francisco Mota, Maria Perez-Serrano Serrano, M. Encarnacion Merlo, Fabian Martinez-Hernandez, Esteban Salmeron-Sanchez, Antonio Jesus Mendoza-Fernandez, Francisco J. Perez-Garcia, Gabriel Montserrat-Marti, Pablo Tejero
Summary: The variation of plant elemental composition is influenced by phylogeny, environment, and adaptation to gypsum soils. Despite the predominant effect of phylogeny, gypsum soils have a significant impact on the elemental composition of plants.
Article
Agriculture, Multidisciplinary
Wang Kai, Wu Ping-xian, Chen De-juan, Zhou Jie, Yang Xi-di, Jiang An-an, Ma Ji-deng, Tang Qian-zi, Xioa Wei-hang, Jiang Yan-zhi, Zhu Li, Qiu Xiao-tian, Li Ming-zhou, Li Xue-wei, Tang Guo-qing
Summary: A genome-wide scan was performed to detect selection signatures in the domestication process of Landrace and Yorkshire pigs, revealing that genes associated with basic metabolism, disease resistance, body morphology, and organ control were subject to selection pressure. This study provides new insights into the potential genetic variation of phenotypic diversity in different pig breeds and helps understand the selection effects of modern breeding in these pigs.
JOURNAL OF INTEGRATIVE AGRICULTURE
(2021)
Article
Agriculture, Dairy & Animal Science
L. Tao, Y. F. Liu, H. Zhang, H. Z. Li, F. P. Zhao, F. Y. Wang, R. S. Zhang, R. Di, M. X. Chu
Summary: This study identified candidate genes related to body size in Qira black sheep through genome-wide association study. Inbreeding depression on body size was observed in the current herd. These results provide insights into the genetic mechanisms of adult body size in Qira black sheep.
Article
Agriculture, Dairy & Animal Science
Lijun Shi, Huihui Li, Xuefeng Gao, Lixian Wang
Summary: This study identified significant SNPs and candidate genes associated with litter traits in Yorkshire pigs using genome-wide association studies.
Article
Agriculture, Dairy & Animal Science
Xudong Wu, Ren Zhou, Wei Zhang, Bangji Cao, Jing Xia, Caiyun Wang, Xiaodong Zhang, Mingxing Chu, Zongjun Yin, Yueyun Ding
Summary: Runs of homozygosity (ROH) were evaluated in Wannan Black pigs to assess inbreeding levels and identify regions with high ROH frequency. A large number of ROHs were identified across the genome, with high levels of inbreeding observed in Wannan Black pigs. This study provides valuable insights for future research and conservation efforts for the germplasm resources of Wannan Black pigs.
Article
Cardiac & Cardiovascular Systems
Javier Bermejo, Ana Gonzalez-Mansilla, Teresa Mombiela, Ana I. Fernandez, Pablo Martinez-Legazpi, Raquel Yotti, Rocio Garcia-Orta, Pedro L. Sanchez-Fernandez, Mario Castano, Javier Segovia-Cubero, Pilar Escribano-Subias, J. Alberto San Roman, Xavier Borras, Angel Alonso-Gomez, Javier Botas, Maria G. Crespo-Leiro, Sonia Velasco, Antoni Bayes-Genis, Amador Lopez, Roberto Munoz-Aguilera, Manuel Jimenez-Navarro, Jose R. Gonzalez-Juanatey, Arturo Evangelista, Jaime Elizaga, Javier Martin-Moreiras, Jose M. Gonzalez-Santos, Eduardo Moreno-Escobar, Francisco Fernandez-Aviles
Summary: The study reveals that the presence of pulmonary hypertension following successful correction of valvular heart disease is associated with a higher mortality rate, which is related to factors such as pulmonary vascular resistance, diabetes mellitus, and residual effective valve area. These findings have significant implications for individualizing valve correction procedures.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Multidisciplinary Sciences
Samuele Bovo, Giuseppina Schiavo, Anisa Ribani, Valerio J. Utzeri, Valeria Taurisano, Mohamad Ballan, Maria Munoz, Estefania Alves, Jose P. Araujo, Riccardo Bozzi, Rui Charneca, Federica Di Palma, Ivona Djurkin Kusec, Graham Etherington, Ana Fernandez, Fabian Garcia, Juan Garcia-Casco, Danijel Karolyi, Maurizio Gallo, Jose Manuel Martins, Marie-Jose Mercat, Yolanda Nunez, Raquel Quintanilla, Cedomir Radovic, Violeta Razmaite, Juliette Riquet, Radomir Savic, Martin Skrlep, Graziano Usai, Christoph Zimmer, Cristina Ovilo, Luca Fontanesi
Summary: This study investigated the variability of four genes in European and Asian pig populations and identified numerous variants. The results support the importance of conservation programs for pig genetic resources and the potential use of host gene variability to design selection programs to increase resistance to coronaviruses.
SCIENTIFIC REPORTS
(2021)
Article
Cardiac & Cardiovascular Systems
Jesus G. Mirelis, Luis Escobar-Lopez, Juan Pablo Ochoa, Maria Angeles Espinosa, Eduardo Villacorta, Marina Navarro, Guillem Casas, Nerea Mora-Ayestaran, Roberto Barriales-Villa, Maria Victoria Mogollon-Jimenez, Jose M. Garcia-Pinilla, Pablo E. Garcia-Granja, Vicente Climent, Julian Palomino-Doza, Ana Garcia-Alvarez, Maria Alvarez-Barredo, Eva Cabrera-Borrego, Tomas Ripoll-Vera, Maria Luisa Pena-Pena, Elena Rodriguez-Gonzalez, Maria Gallego-Delgado, Josefa Gonzalez-Carrillo, Ana Fernandez-Avila, Jose F. Rodriguez-Palomares, Ramon Brugada, Antoni Bayes-Genis, Fernando Dominguez, Pablo Garcia-Pavia
Summary: Genotype and left ventricular scar on cardiac magnetic resonance (CMR) are risk markers for adverse outcomes in non-ischaemic dilated cardiomyopathy (DCM). This study investigated the combined influence of genotype and late gadolinium enhancement (LGE) on prognosis in a large cohort of DCM patients. The results showed that classification of patients according to genotype and LGE improved the prediction of malignant ventricular arrhythmias (MVA) and end-stage heart failure (ESHF). Scar assessment with CMR and genotyping should be considered in selecting patients for primary prevention implantable cardioverter-defibrillator placement.
EUROPEAN JOURNAL OF HEART FAILURE
(2022)
Article
Agriculture, Dairy & Animal Science
Maria Gracia Luigi-Sierra, Almudena Fernandez, Amparo Martinez, Dailu Guan, Juan Vicente Delgado, Javier Fernandez Alvarez, Vincenzo Landi, Francesc Xavier Such, Jordi Jordana, Maria Saura, Marcel Amills
Summary: This study reveals the presence of inbreeding depression in Murciano-Granadina goats, with significant impact on economically important phenotypes such as udder health and milk yield. Minimizing inbreeding can lead to increased milk yield and reduced incidence of mastitis, thereby contributing to economic gain.
JOURNAL OF ANIMAL SCIENCE AND BIOTECHNOLOGY
(2022)
Article
Immunology
Maria Canive, Gerard Badia-Bringue, Patricia Vazquez, Joseba M. Garrido, Ramon A. Juste, Almudena Fernandez, Oscar Gonzalez-Recio, Marta Alonso-Hearn
Summary: Although the genetic susceptibility to diseases has been extensively studied, the genetic loci and mechanisms that control disease tolerance are still largely unknown. In this study, the associations between host genetics and paratuberculosis (PTB) tolerance in cattle were investigated. The researchers found several single nucleotide polymorphisms associated with PTB tolerance, shedding light on the mechanisms underlying this trait.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Fisheries
Beatriz Villanueva, Almudena Fernandez, Ramon Peiro-Pastor, Carolina Penaloza, Ross D. Houston, Anna K. Sonesson, Costas S. Tsigenopoulos, Luca Bargelloni, Kutsal Gamsiz, Bilge Karahan, Emel O. Gokcek, Jesus Fernandez, Maria Saura
Summary: Population structure and genetic diversity between wild and farmed populations of gilthead sea bream and European seabass in the Mediterranean Sea were assessed in this study. Results showed clear differentiation between wild and farmed populations, with farmed populations showing high heterogeneity. Some farmed populations had a genetic makeup similar to wild populations. Effective population sizes were larger in wild populations and smaller in farmed populations.
AQUACULTURE REPORTS
(2022)
Letter
Cardiac & Cardiovascular Systems
Maria Lopez Blazquez, Ana Isabel Fernandez Avila, Reyes Alvarez Garcia-Roves, Miriam Centeno Jimenez, Cristina Gomez Gonzalez, Maria Angeles Espinosa Castro
REVISTA ESPANOLA DE CARDIOLOGIA
(2022)
Article
Biology
Maria Gabian, Paloma Moran, Maria Saura, Antonio Carvajal-Rodriguez
Summary: Atlantic salmon populations in the Iberian Peninsula and Scotland have shown potential evidence of local adaptation, which may explain the failure of restocking programs in the past. The NADP-dependent malic enzyme-2 (mMEP-2*) gene was identified as a potential candidate for local adaptation in salmon from the Iberian Peninsula. The decline in Atlantic salmon populations in the Iberian Peninsula is likely due to pollution and the inability of foreign salmon to adapt to the warm waters of the region.
Article
Biochemistry & Molecular Biology
Elisabeth Morales-Gonzalez, Beatriz Villanueva, Miguel a. Toro, Jesus Fernandez
Summary: The Optimal Contribution (OC) method is the consensus method for maintaining genetic diversity in both undivided and subdivided populations. In subdivided populations, this method maximizes global genetic diversity by determining the optimal contribution of each candidate to each subpopulation, while balancing coancestry levels between and within subpopulations. Inbreeding can be controlled by increasing the weight given to within-subpopulation coancestry (lambda).
MOLECULAR ECOLOGY RESOURCES
(2023)
Article
Agriculture, Dairy & Animal Science
Armando Caballero, Almudena Fernandez, Beatriz Villanueva, Miguel A. Toro
Summary: This study investigates the accuracy of estimators of inbreeding based on molecular markers in different mating systems and artificially selected populations. The results show that when the allele frequencies of the base population are known, all estimators based on marker allele frequencies provide accurate estimates of inbreeding coefficients and inbreeding depression. When the allele frequencies are unknown, F-LH1 is the most correlated estimator with the actual values, and F-YA2 provides the most accurate estimates of inbreeding depression.
GENETICS SELECTION EVOLUTION
(2022)
Review
Biotechnology & Applied Microbiology
Ana Maria Sanchez de la Nava, Lidia Gomez-Cid, Gonzalo Ricardo Rios-Munoz, Maria Eugenia Fernandez-Santos, Ana I. Fernandez, Angel Arenal, Ricardo Sanz-Ruiz, Lilian Grigorian-Shamagian, Felipe Atienza, Francisco Fernandez-Aviles
Summary: Translational science plays a crucial role in connecting basic and clinical levels in the field of cardiovascular diseases, aiming to transfer potential treatments from preclinical stages to clinical practice. The introduction of digital health solutions has enhanced this transfer process.
Meeting Abstract
Cardiac & Cardiovascular Systems
L. Gomez-Cid, M. Moro-Lopez, A. S. De La Nava, A. I. Fernandez, M. E. Fernandez-Santos, F. Atienza, L. Grigorian, F. Fernandez-Aviles
EUROPEAN HEART JOURNAL
(2021)
Article
Agriculture, Dairy & Animal Science
Maria Saura, Armando Caballero, Enrique Santiago, Almudena Fernandez, Elisabeth Morales-Gonzalez, Jesus Fernandez, Santiago Cabaleiro, Adrian Millan, Paulino Martinez, Christos Palaiokostas, Martin Kocour, Muhammad L. Aslam, Ross D. Houston, Martin Prchal, Luca Bargelloni, Kostas Tzokas, Pierrick Haffray, Jean-Sebastien Bruant, Beatriz Villanueva
Summary: The study reveals that the current effective population size of commercial fish populations is small, posing a risk to their sustainability. Important drops in effective population size were detected about five to nine generations ago, likely due to domestication and selective breeding programmes in Europe. To ensure the sustainability of breeding programmes, it is crucial to broaden the genetic composition of base populations and implement measures to increase effective population size across farmed populations.
GENETICS SELECTION EVOLUTION
(2021)
Article
Cardiac & Cardiovascular Systems
Irene Mendez, Ana Isabel Fernandez, Maria Angeles Espinosa, Sofia Cuenca, Rebeca Lorca, Jose Fernando Rodriguez, Maria Tamargo, Marta Garcia-Montero, Cristina Gomez, Silvia Vilches, Nelida Vazquez, Reyes Alvarez, Constancio Medrano, Raquel Yotti, Francisco Fernandez-Aviles, Javier Bermejo
Summary: The MYBPC3 c.2149-1G>A splicing variant is identified as a founder mutation, showing higher penetrance and earlier onset in males. Carriers of MYBPC3 c.2149-1G>A exhibit better functional class and higher LVEF compared to MYBPC3 p.Arg502Trp/Gln carriers, but both groups have similar rates of major adverse outcomes.
Article
Agriculture, Dairy & Animal Science
Beatriz Villanueva, Almudena Fernandez, Maria Saura, Armando Caballero, Jesus Fernandez, Elisabeth Morales-Gonzalez, Miguel A. Toro, Ricardo Pong-Wong
Summary: This study investigated measures of inbreeding obtained from five genomic matrices in a population of Iberian pigs, showing that except for the Nejati-Javaremi allelic relationship matrix, the evaluated measures do not match with the original definitions of inbreeding coefficient. When interpreted as indicators of variability gained or lost relative to a base population, the Nejati-Javaremi and Li and Horvitz matrices led to sensible results, while the VanRaden and Yang genomic relationship matrices did not.
GENETICS SELECTION EVOLUTION
(2021)