Article
Biochemistry & Molecular Biology
Elizabeth M. Humphries, Kwangmi Ahn, Rachel L. Kember, Fabiana L. Lopes, Evelina Mocci, Juan M. Peralta, John Blangero, David C. Glahn, Fernando S. Goes, Peter P. Zandi, Peter Kochunov, Cristopher Van Hout, Alan R. Shuldiner, Toni I. Pollin, Braxton D. Mitchell, Maja Bucan, L. Elliot Hong, Francis J. McMahon, Seth A. Ament
Summary: By conducting a genome-wide association study of mood disorders in a founder population, the Old Order Amish, four significant risk loci were identified, all of which were associated with more than a 2-fold relative risk. Further assessments revealed effects of these risk variants on sub-clinical depressive symptoms and information processing speed. Network analysis suggested that these risk loci may harbor novel risk-associated genes, which interact with known neuropsychiatry-associated genes through gene interaction networks. Annotation of the variants at these risk loci revealed enrichment of non-synonymous variants in two genes encoding neurodevelopmental transcription factors, CUX1 and CNOT1. These findings provide valuable insights into the genetic architecture of mood disorders and serve as a foundation for mechanistic and clinical studies.
MOLECULAR PSYCHIATRY
(2023)
Article
Genetics & Heredity
Wenting Zhu, Kai Yan, Xijing Chen, Wei Zhao, Yiqing Wu, Huanna Tang, Ming Chen, Jian Wu, Pengpeng Wang, Runju Zhang, Yiping Shen, Dan Zhang
Summary: This study identified a founder pathogenic variant specific to the Chinese population in PPIB and provided an initial estimation of OI-IX disease incidence in China.
FRONTIERS IN GENETICS
(2021)
Article
Biodiversity Conservation
Romy Woellner, Christoph Scheidegger, Sabine Fink
Summary: Relocation of rivers due to infrastructure projects provides opportunities for ecological restorations, with genetic analysis revealing the colonization success of riparian habitats. The study in Switzerland's Inn catchment focuses on Myricaria germanica's population dynamics and genetic patterns, showing the importance of flood dynamics for successful colonization of dynamic riparian habitats.
GLOBAL ECOLOGY AND CONSERVATION
(2021)
Article
Agriculture, Dairy & Animal Science
Fernando de Oliveira Bussiman, Rachel Santos Bueno Carvalho, Ricardo Vieira Ventura, Elisangela Chicaroni Mattos, Jose Bento Sterman Ferraz, Joanir Pereira Eler, Fabyano Fonseca e Silva, Jlio Cesar de Carvalho Balieiro
Summary: Studying the founders' contribution in a population is important as it provides a baseline for any study involving genetic diversity loss and inbreeding increase. In this study, the formation of different lineages and its impact on breeding values were evaluated using a pedigree of 107,951 horses and a dataset of 19 traits measured in 18,695 horses. Results showed the presence of three lineages formed by six stallions and eight mares, explaining about 42.53% of the gene pool in the current population. Most founders had negative breeding values for gait scores, leading to negative genetic averages in the population. The lineages also affected genetic correlations among adjusted phenotypes for all studied traits.
Article
Multidisciplinary Sciences
Jeffrey D. Wall, J. Fah Sathirapongsasuti, Ravi Gupta, Asif Rasheed, Radha Venkatesan, Saurabh Belsare, Ramesh Menon, Sameer Phalke, Anuradha Mittal, John Fang, Deepak Tanneeru, Manjari Deshmukh, Akshi Bassi, Jacqueline Robinson, Ruchi Chaudhary, Sakthivel Murugan, Zameer ul-Asar, Imran Saleem, Unzila Ishtiaq, Areej Fatima, Saqib Shafi Sheikh, Shahid Hameed, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-ur-Rehman Memon, Anjum Jalal, Shahid Abbas, Philippe Frossard, Christian Fuchsberger, Lukas Forer, Sebastian Schoenherr, Qixin Bei, Tushar Bhangale, Jennifer Tom, Santosh Gopi Krishna Gadde, B. Priya, Naveen Kumar Naik, Minxian Wang, Pui-Yan Kwok, Amit V. Khera, B. R. Lakshmi, Adam S. Butterworth, Rajiv Chowdhury, John Danesh, Emanuele di Angelantonio, Aliya Naheed, Vinay Goyal, Rukmini M. Kandadai, Hrishikesh Kumar, Rupam Borgohain, Adreesh Mukherjee, Pettarusp M. Wadia, Ravi Yadav, Soaham Desai, Niraj Kumar, Atanu Biswas, Pramod Kumar Pal, Uday B. Muthane, Shymal K. Das, Vedam L. Ramprasad, Prashanth L. Kukkle, Somasekar Seshagiri, Sekar Kathiresan, Arkasubhra Ghosh, V. Mohan, Danish Saleheen, Eric W. Stawiski, Andrew S. Peterson
Summary: The benefits of large-scale genetic studies for healthcare have been well-documented, but certain populations, such as those from South Asia, have been overlooked. In this study, researchers collected whole genome sequence (WGS) data from individuals in Pakistan, India, Bangladesh, as well as isolated South Asian populations. The study revealed high rates of reproductive isolation, endogamy, and consanguinity in South Asia, leading to a higher prevalence of rare homozygotes compared to outbred populations. Founder effects in South Asia make it an ideal location for population-scale genetic studies.
NATURE COMMUNICATIONS
(2023)
Article
Biology
May E. Montasser, Stella Aslibekyan, Vinodh Srinivasasainagendra, Hemant K. Tiwari, Amit Patki, Minoo Bagheri, Tobias Kind, Dinesh Kumar Barupal, Sili Fan, James Perry, Kathleen A. Ryan, Alan R. Shuldiner, Donna K. Arnett, Amber L. Beitelshees, Marguerite Ryan Irvin, Jeffrey R. O'Connell
Summary: This study identified lipid species associated with rare population alleles through a genome-wide association scan of a founder population. The findings highlight the power of founder populations and detailed lipidomics in discovering novel trait-associated variants.
COMMUNICATIONS BIOLOGY
(2022)
Article
Biodiversity Conservation
R. Rabier, A. Erlichman, L. Lesobre, A. Robert
Summary: Conservation breeding programs rely on pedigree analyses for genetic management and monitoring, but the assumption that founders are not related can result in overestimation of genetic diversity and underestimation of inbreeding in captive populations.
ANIMAL CONSERVATION
(2022)
Article
Plant Sciences
Xuejin Cui, Kehong Liu, Jie Huang, Shimin Fu, Qingdong Chen, Xu Liu, Changyong Zhou, Xuefeng Wang
Summary: This study evaluated the transmission route of citrus huanglongbing (HLB) in newly invaded regions of Sichuan, China and proposed strategies for preventing its spread. The results showed higher molecular variability of HLB in the newly invaded area compared to the endemic areas, as well as diversity in the mitochondrial genomes of the Asian citrus psyllid (ACP).
Review
Microbiology
Scott C. Weaver, Naomi L. Forrester, Jianying Liu, Nikos Vasilakis
Summary: Transmission of arthropod-borne viruses involves infection and replication in both arthropod vectors and vertebrate hosts, with population bottlenecks and founder effects playing important roles in arboviral evolution and spread, as well as the emergence of human disease.
NATURE REVIEWS MICROBIOLOGY
(2021)
Article
Veterinary Sciences
Fangyuan Yin, Chuanjiang Guo, Zhuojia Tian, Dong Li, Daoe Mu, Haoting Liu, Guiquan Guan, Hong Yin, Facai Li
Summary: Babesia gibsoni is a tick-borne protozoan causing canine babesiosis. Genetic variation of B. gibsoni population was examined to understand disease transmission and develop control strategies. Results showed high genetic diversity within populations and significant differentiation across continents.
FRONTIERS IN VETERINARY SCIENCE
(2023)
Article
Plant Sciences
Jiaolin Mou, Zhehui Zhang, Haiji Qiu, Yang Lu, Xiang Zhu, Ziquan Fan, Qinghua Zhang, Junli Ye, Alisdair R. Fernie, Yunjiang Cheng, Xiuxin Deng, Weiwei Wen
Summary: Deciphering the genetic basis of plant secondary metabolism, especially in citrus plants, can provide insights for genetic improvement and enhance our understanding of plant biological processes. By utilizing a high-density linkage map, researchers identified multiple quantitative trait loci (QTLs) for flavonoids in different tissues of a citrus population, shedding light on potential candidate genes involved in flavonoid biosynthesis. Further functional verification of a gene encoding flavanone 3-hydroxylase (F3H) indicated its role in natural variation of dihydrokaempferol content, laying the groundwork for future studies on citrus flavonoid biosynthesis pathway.
HORTICULTURE RESEARCH
(2021)
Article
Immunology
Mohadese Sadat Mousavi Khorshidi, Yoann Seeleuthner, Zahra Chavoshzadeh, Maryam Behfar, Amir Ali Hamidieh, Hosein Alimadadi, Roya Sherkat, Tooba Momen, Nasrin Behniafard, Shabnam Eskandarzadeh, Mahboubeh Mansouri, Mahdiyeh Behnam, Mohadese Mahdavi, Maryam Heydarazad Zadeh, Mehdi Shokri, Fatemeh Alizadeh, Mahshid Movahedi, Mana Momenilandi, Mohammad Keramatipour, Jean-Laurent Casanova, Aurelie Cobat, Laurent Abel, Mohammad Shahrooei, Nima Parvaneh
Summary: This study describes the clinical, immunologic, and genetic features of 18 Iranian patients with MHC-II deficiency. Patients commonly present with severe respiratory and gastrointestinal tract infections at early ages. A founder mutation (c.162delG) in the RFXANK gene was identified and found to be limited to the Iranian population, dating back approximately 1296 years ago. The study suggests that MHC-II deficiency is not rare in Iran, and genetic counseling and family planning should be implemented for affected families.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Environmental Sciences
Hee-kyu Choi, Ji Eun Jang, Seo Yeon Byeon, Yu Rim Kim, Dale Maschette, Sangdeok Chung, Seok-Gwan Choi, Hyun-Woo Kim, Hyuk Je Lee
Summary: The genetic diversity of Antarctic toothfish was found to be higher in Subareas 58 than Subareas 88, suggesting larger effective population sizes in Subareas 58. Analysis of microsatellites suggested that the sampled populations likely form a single gene pool, but weak microsatellite differentiation in some population pairs hinted at the possibility of multiple genetic populations. The genetic structure of D. mawsoni appeared to be temporally stable, with no genetic differentiation observed between juveniles and adults. This study's findings will aid in developing effective stock management strategies for Antarctic toothfish, with long-term genetic monitoring recommended to understand population dynamics in response to climate changes.
FRONTIERS IN MARINE SCIENCE
(2021)
Article
Marine & Freshwater Biology
Bernhard Bein, Francoise D. Lima, Henrique Lazzarotto, Luiz A. Rocha, Tatiana S. Leite, Sergio M. Q. Lima, Ricardo J. Pereira
Summary: Coastal marine ecosystems play a vital role in global fisheries, and the oceanic currents and habitat breaks are crucial in shaping the diversification and genetic variability of coastal marine species. This study is the first population genomic study of the Octopus insularis species, revealing the South Equatorial current as the main obstacle to gene flow between different parts of its range. The research also highlights the lower genetic diversity in insular populations and emphasizes the need for revising their protection status.
Article
Biochemistry & Molecular Biology
Emily Humble, Jane Hosegood, Gary Carvalho, Mark de Bruyn, Simon Creer, Guy M. W. Stevens, Amelia Armstrong, Ramon Bonfil, Mark Deakos, Daniel Fernando, Niv Froman, Lauren R. Peel, Stephen Pollett, Alessandro Ponzo, Joshua D. Stewart, Sabine Wintner, Rob Ogden
Summary: Understanding population connectivity and genetic diversity is crucial for conservation, but it remains challenging for globally threatened marine megafauna. This study uses a comparative framework to investigate the genetic differentiation and diversity of manta rays, revealing higher connectivity and heterozygosity in oceanic manta rays. The findings also emphasize the potential impact of fisheries on population dynamics.
