Single-step genomic BLUP (ssGBLUP) is a powerful approach for breeding value prediction in populations with a limited number of genotyped animals. However, conflicting genomic (G) and pedigree (A) relationship matrices complicate the implementation of ssGBLUP into practice. The metafounder (MF) approach is a recently proposed solution for this problem and has been successfully used on simulated and real multi-breed pig data. Advantages of the method are easily seen across breed evaluations, where pedigrees are traced to several pure breeds, which are thereafter used as MF. Application of the MF method to ruminants is complicated due to multi-breed pedigree structures and the inability to transmit existing unknown parent groups (UPG) to MF. In this study, we apply the MF approach for ssGBLUP evaluation of Finnish Red Dairy cattle treated as a single breed. Relationships among MF were accounted for by a (co)variance matrix (Γ) computed using estimated base population allele frequencies. The attained Γ was used to calculate a relationship matrix A for the genotyped animals. We tested the influence of SNP selection on the Γ matrix by applying a minor allele frequency (MAF) threshold (Γ) where accepted markers had an MAF ≥0.05. Elements in the Γ matrix were slightly lower than in the Γ matrix. Correlation between diagonal elements of the genomic and pedigree relationship matrices increased from 0.53 (A) to 0.76 ( A and [Formula: see text] ). Average diagonal elements of A and [Formula: see text] matrices increased to the same level as in the G matrix. The ssGBLUP breeding values (GEBV) were solved using either the original 236 or redefined 8 UPG, or 8 MF computed with or without the MAF threshold. For bulls, the GEBV validation test results for the 8 UPG and 8 MF gave the same validation reliability (R; 0.31) and over-dispersion (0.73, measured by regression coefficient b). No significant R increase was observed in cows. Thus, the MF greatly influenced the pedigree relationship matrices but not the GEBV. Selection of SNP according to MAF had a notable effect on the Γ matrix and made the A and G matrices more similar.
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http://dx.doi.org/10.3168/jds.2019-17483 | DOI Listing |
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou, Zhejiang 318050, China.
Objective: To determine the types of genetic variants in six Chinese pedigrees affected with Marfan syndrome (MFS) and analyze their clinical characteristics and molecular pathogenesis.
Methods: Six MFS pedigrees presented at the Taizhou Enze Medical Center (Group) between 2017 and 2022 were selected as the study subjects. Clinical data of pedigrees were retrospectively analyzed.
PLoS One
January 2025
Department of Psychiatry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, United States of America.
Novel denovo variants of exome sequences are major cause of pathogenic neurodevelopmental disorders with a dominant genetic mechanism that emphasize their heterogeneity and complex phenotypes. White Sutton syndrome and Gabriele-de-Vries syndrome are congenital neuro-impairments with overlap of severe intellectual disability, microcephaly, convulsions, seizures, delayed development, dysmorphism of faces, retinal diseases, movement disorders and autistic traits. POGZ gene codes for pogo transposable element-derived zinc-finger protein and YY1 gene regulates transcription, chromatin, and RNA-binding proteins that have been associated with White Sutton and Gabriele-de-Vries syndromes, in recent data.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Animal Molecular Biology, National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland.
The Hucul horse breed formed in the region of the Eastern Carpathians, likely through the natural crossbreeding of oriental horses. After World War II, their population significantly decreased, leading to the breeding being based on only 14 female lines, whose founders often had unknown origins. To preserve the breed's unique characteristics, it is now part of a Genetic Resources Conservation Program, which prioritizes the maintenance of genetic diversity.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Baoding Hospital, Beijing Children's Hospital Affiliated with Capital Medical University, Baoding, China.
Objective: The objective of this study is to investigate the clinical presentation and underlying genetic etiology of a Chinese child diagnosed with idiopathic central precocious puberty (ICPP).
Methods: Clinical data from a pediatric patient with ICPP, including medical history, physical examination findings, laboratory results, and imaging studies, were collected and analyzed. Whole exome sequencing (WES) was performed to identify potential pathogenic genetic variants underlying the patient's ICPP.
BMC Plant Biol
January 2025
Misión Biológica de Galicia (CSIC), Depto. Producción Vegetal, Pazo de Salcedo, Carballeira 8, Pontevedra, 36143, Spain.
Background: The crosslinking of maize cell wall components, particularly mediated by the formation of ferulic acid dimers or diferulates, has been associated with important crop valorization traits such as increased pest resistance, lower forage digestibility, or reduced bioethanol production. However, these relationships were based on studies performed using diverse unrelated inbred lines and/or populations, so genetic background could interfere on these associations.
Results: In the present research, the success of a pedigree selection program aimed to obtain inbred lines from a common antecessor with contrasting diferulate concentration was evaluated.
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