Results 51 to 60 of about 8,739 (269)

Optimizing genetic diversity in Australian Holsteins and Jerseys: A comparative analysis of whole-genome and regional inbreeding depression effects

Journal of Dairy Science
: Homozygosity, which can arise from several genetic mechanisms including inbreeding, is frequently observed in the offspring of related parents. This inbreeding can lead to a reduced performance, owing to a phenomenon known as inbreeding depression ...
B.A. Scott, M. Haile-Mariam, F. Tiezzi, I. van den Berg, C. Maltecca, J.E. Pryce   +5 more
doaj   +1 more source

Genomic characterization of autozygosity and recent inbreeding trends in all major breeds of US dairy cattle

Journal of Dairy Science, 2022
: Maintaining a genetically diverse dairy cattle population is critical to preserving adaptability to future breeding goals and avoiding declines in fitness.
Emmanuel A. Lozada-Soto, Francesco Tiezzi, Jicai Jiang, John B. Cole, Paul M. VanRaden, Christian Maltecca   +5 more
doaj   +1 more source

Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia [PDF]

, 2019
Evolutionarily significant selective sweeps may result in long stretches of homozygous polymorphisms in individuals from outbred populations. We developed whole-genome homozygosity association (WGHA) methodology to characterize this phenomenon in healthy
Morgan, T. Vance, Malhotra, Anil, DeRosse, Pamela, Kucherlapati, Raju, Lencz, Todd, Kane, John, Lambert, Christophe, Burdick, Katherine   +7 more
core   +1 more source

Genome-wide detection for runs of homozygosity analysis in three pig breeds from Chinese Taihu Basin and Landrace pigs by SLAF-seq data

Journal of Integrative Agriculture, 2022
Erhualian (E), Meishan (MS) and Mi (MI) pigs are excellent indigenous pig breeds in Chinese Taihu Basin, which have made great contributions to the genetic improvement of commercial pigs. Investigation of the genetic structure and inbreeding level of the
Shi-feng TONG, Mo ZHU, Rui XIE, Dong-feng LI, Li-fan ZHANG, Yang LIU   +5 more
doaj   +1 more source

Inbreeding depression affecting stayability in Italian Holstein cows

Journal of Dairy Science
: Advances in selection and reproduction methods, particularly the implementation of genomic evaluations alongside assisted reproductive technologies, have substantially enhanced productivity and efficiency, notably within specialized dairy cattle ...
J.C.C. Panetto, C. Maltecca, M. Ablondi, S. Callegaro, J-T. van Kaam, R. Finocchiaro, A. Fabris, M.C. Fabbri, M. Cassandro, C. Cipolat-Gotet, A. Zanotti, R. Bozzi, F. Tiezzi   +12 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability. [PDF]

, 2014
Purpose:The harmful effects of inbreeding are well known by geneticists, and several studies have already reported cases of intellectual disability caused by recessive variants in consanguineous families.
Carella M, Palumbo O, FALETRA, FLAVIO, PECILE, VANNA, D'ADAMO, ADAMO PIO, Bosco P, Ferrero GB, Biamino E, Romano C, Faletra F, VOZZI, Diego, GANDIN, ILARIA, Palumbo P, BELCARO, CHIARA   +13 more
core   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

IDENTIFICATION OF DISEASE GENES FOR RARE AUTOSOMAL RECESSIVE EPILEPTIC SYNDROMES BY HOMOZYGOSITY MAPPING [PDF]

, 2011
Introduction: The genetics of the most common neurological disorders, including epilepsy, with mendelian inheritance has been dissected in the last twenty years. However the genetic etiology of some rare epileptic conditions is still unknown.
Coppola, Antonietta
core  

Multi-trait meta-analyses reveal 25 quantitative trait loci for economically important traits in Brown Swiss cattle

BMC Genomics, 2019
Background Little is known about the genetic architecture of economically important traits in Brown Swiss cattle because only few genome-wide association studies (GWAS) have been carried out in this breed.
Zih-Hua Fang, Hubert Pausch
doaj   +1 more source