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The present study conducted on an organised herd of Sahiwal cattle to elucidate the population structure parameter based on seven decades of genealogical information. The genealogical data (N = 4164) spanning 1949 to 2023 maintained at ICAR-National Dairy Research Institute, Karnal, India was considered with the aim to evaluate depth and accuracy of pedigree, population parameter and genetic diversity in different breeding schemes for whole population and pertinent reference cohort. The animal born from 1979 to 2009 grouped as reference 1 and from 2010 to 2023 as reference 2 cohort. The comprehensiveness of the whole population, reference 1 and reference 2 was over 50% up to the fourth, third and sixth generations respectively. The average relatedness and inbreeding coefficient were 5.92% and 2.69% for whole population, 5.44% and 1.96% for reference 1 and 6.98% and 3.85% for reference 2 respectively. The effective population size varied from 32.31 to 145.51 in the study. The average generation interval varies from 9.2 years in reference 1 to 8.2 years in whole pedigree and 6.6 years in reference 2 under study. The ratio (f/f) of effective number of founders (f) and ancestors (f) were 1.67, 1.59 and 1.90 for the whole, reference 1 and reference 2 respectively. The estimate for f/f ratio indicated that 54% of ancestral genetic diversity is retained in the current generation. Thus, present study provides critical insights to maintain effective population size, rate and level of inbreeding with contribution of founders in current population for optimum genetic diversity and improving breeding efficiency in planning future breeding programs.
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http://dx.doi.org/10.1007/s11250-025-04564-8 | DOI Listing |
Genome Biol
September 2025
Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, 100101, Beijing, China.
Background: Centromeres are crucial for precise chromosome segregation and maintaining genome stability during cell division. However, their evolutionary dynamics, particularly in polyploid organisms with complex genomic architectures, remain largely enigmatic. Allopolyploid wheat, with its well-defined hierarchical ploidy series and recent polyploidization history, serves as an excellent model to explore centromere evolution.
View Article and Find Full Text PDFGenome Biol
September 2025
Center for Genomic Medicine, Cardiovascular Research Center, , Massachusetts General Hospital Simches Research Center, 185 Cambridge Street, CPZN 5.238,, Boston, MA, 02114, USA.
Background: Rare genetic variation provided by whole genome sequence datasets has been relatively less explored for its contributions to human traits. Meta-analysis of sequencing data offers advantages by integrating larger sample sizes from diverse cohorts, thereby increasing the likelihood of discovering novel insights into complex traits. Furthermore, emerging methods in genome-wide rare variant association testing further improve power and interpretability.
View Article and Find Full Text PDFBMC Mol Cell Biol
September 2025
School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Retinitis pigmentosa (RP) affects around 1 in 4000 individuals and represents approximately 25% of cases of vision loss in adults, through death of retinal rod and cone photoreceptor cells. It remains a largely untreatable disease, and research is needed to identify potential targets for therapy. Mutations in 94 different genes have been identified as causing RP, including AGBL5 which encodes the main deglutamylase that regulates and maintains functional levels of cilia tubulin glutamylation, which is essential to initiate ciliogenesis, maintain cilia stability and motility.
View Article and Find Full Text PDFTheor Appl Genet
September 2025
Plant Breeding, Wageningen University & Research, P.O. Box 386, 6700 AJ, Wageningen, The Netherlands.
Potato bolters are caused by excision of a transposon from the StCDF1.3 allele, resulting in a somatic mutant with late maturity. Somatic mutations during vegetative propagation can lead to novel genotypes, known as sports.
View Article and Find Full Text PDFEMBO J
September 2025
School of Life and Environmental Sciences, Faculty of Science, The University of Sydney, Sydney, NSW, Australia.
Insulin resistance is a heritable risk factor for many chronic diseases; however, the genetic drivers remain elusive. In seeking these, we performed genetic mapping of insulin sensitivity in 670 chow-fed Diversity Outbred in Australia (DOz) mice and identified a genome-wide significant locus (QTL) on chromosome 8 encompassing 17 defensin genes. By taking a systems genetics approach, we identified alpha-defensin 26 (Defa26) as the causal gene in this region.
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