Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD).

Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5. Defects in SLC17A5 lead to lysosomal accumulation of free sialic acid and other acid hexoses. The clinical spectrum of FSASD ranges from mild (Salla disease) to severe infantile forms.

Sampling and Laboratory Logistics: How to Collect DNA Samples and Overview of Techniques for Laboratory Analysis.

This article discusses different options and best practices for sample types and sample collection devices for downstream genotyping in today's sophisticated animal husbandry systems. Best practices for sample collection, shipping, and submission of samples are shown and an overview of techniques for laboratory analysis is provided. The ultimate goal is to facilitate the generation of useful and meaningful results for the client.

A look under the hood of genomic-estimated breed compositions for brangus cattle: What have we learned?

The Brangus cattle were developed to utilize the superior traits of Angus and Brahman cattle. Their genetic compositions are expected to be stabilized at 3/8 Brahman and 5/8 Angus. Previous studies have shown more than expected Angus lineage with Brangus cattle, and the reasons are yet to be investigated.

Relationship of molecular breeding value for beef tenderness with heifer traits through weaning of their first calf.

Polymorphisms in μ-calpain (CAPN1) that beneficially associate with beef tenderness are reported to antagonistically associate with calving day in beef heifers and post-partum interval to estrus in beef cows. We, therefore, hypothesized that a molecular breeding value for slice shear force, calculated based on CAPN1 and calpastatin (CAST) genotypes, would demonstrate an antagonistic relationship between genomically predicted slice shear force and ordinal calving date in replacement beef heifers. A secondary objective of this study was to evaluate the association of a polymorphism in diacylglycerol O-acyltransferase (DGAT1) with reproductive traits in beef heifers.

Generation and validation of knockout human iPSC-derived cerebral organoids.

Apolipoprotein E (apoE) is a major lipid carrier in the brain and closely associated with the pathogenesis of Alzheimer's disease (AD). Here, we describe a protocol for efficient knockout of in human induced pluripotent stem cells (iPSCs) using the CRISPR-Cas9 system. We obtain homozygous knockout ( ) iPSCs and further validate the deficiency of apoE in iPSC-derived cerebral organoids.

A Causality Perspective of Genomic Breed Composition for Composite Animals.

Genomic breed composition (GBC) of an individual animal refers to the partition of its genome according to the inheritance from its ancestors or ancestral breeds. For crossbred or composite animals, knowing their GBC is useful to estimate heterosis, to characterize their actual inheritance from foundation breeds, and to make management decisions for crossbreeding programs. Various statistical approaches have been proposed to estimate GBC in animals, but the interpretations of estimates have varied with these methods.

Genomic mating as sustainable breeding for Chinese indigenous Ningxiang pigs.

An important economic reason for the loss of local breeds is that they tend to be less productive, and hence having less market value than commercial breeds. Nevertheless, local breeds often have irreplaceable values, genetically and sociologically. In the breeding programs with local breeds, it is crucial to balance the selection for genetic gain and the maintaining of genetic diversity.

Estimation of Genomic Breed Composition for Purebred and Crossbred Animals Using Sparsely Regularized Admixture Models.

A variety of statistical methods, such as admixture models, have been used to estimate genomic breed composition (GBC). These methods, however, tend to produce non-zero components to reference breeds that shared some genomic similarity with a test animal. These non-essential GBC components, in turn, offset the estimated GBC for the breed to which it belongs.

Heat stress-induced deficits in growth, metabolic efficiency, and cardiovascular function coincided with chronic systemic inflammation and hypercatecholaminemia in ractopamine-supplemented feedlot lambs.

Heat stress hinders growth and well-being in livestock, an effect that is perhaps exacerbated by the β1 agonist ractopamine. Heat stress deficits are mediated in part by reduced feed intake, but other mechanisms involved are less understood. Our objective was to determine the direct impact of heat stress on growth and well-being in ractopamine-supplemented feedlot lambs.

Enhanced estimates of carcass and meat quality effects for polymorphisms in myostatin and µ-calpain genes.

The objective of this study was to enhance estimates of additive, dominance, and epistatic effects of marker polymorphisms on beef carcass and quality traits. Myostatin (MSTN) F94L SNP and the µ-calpain (CAPN1) 316 and 4751 SNP haplotype have previously been associated with fat and muscle traits in beef cattle. Multiyear selection in a composite population segregating these polymorphisms increased minor allele (F94L L) and chosen haplotype (CAPN1 CC and GT) frequencies to intermediate levels resulting in more precise estimates of additive and nonadditive genetic effects.

Comparing SNP panels and statistical methods for estimating genomic breed composition of individual animals in ten cattle breeds.

Background: SNPs are informative to estimate genomic breed composition (GBC) of individual animals, but selected SNPs for this purpose were not made available in the commercial bovine SNP chips prior to the present study. The primary objective of the present study was to select five common SNP panels for estimating GBC of individual animals initially involving 10 cattle breeds (two dairy breeds and eight beef breeds). The performance of the five common SNP panels was evaluated based on admixture model and linear regression model, respectively.

μ-Calpain (CAPN1), calpastatin (CAST), and growth hormone receptor (GHR) genetic effects on Angus beef heifer performance traits and reproduction.

Genetic marker effects and type of inheritance are estimated with poor precision when minor marker allele frequencies are low. An Angus population was subjected to marker assisted selection for multiple years to equalize CAPN1 haplotypes, CAST, and GHR genetic marker frequencies. The objective was to estimate the pleiotropic effects of these carcass quality oriented markers for body weight, reproduction, and first calf performance traits in 174 replacement beef females which were managed under 2 post-weaning development protocols.

Ultrasound Use for Body Composition and Carcass Quality Assessment in Cattle and Lambs.

Genetic evaluation for carcass quality traits has evolved over time, in large part because of introduction of new technology, such as ultrasound measures of body composition. Ultrasound-measured body composition traits emulate important carcass traits, are very informative for selection purposes, are acquired before final selections of seed stock candidate animals are made, and have seen high adoption rates by beef seed stock producers. The Ultrasound Guidelines Council certifies technicians who collect and interpret ultrasound data for beef producers.

Associations between infectious bovine keratoconjunctivitis at weaning and ultrasongraphically measured body composition traits in yearling cattle.

Objective: To assess associations between infectious bovine keratoconjunctivitis (IBK) diagnosed at weaning and production traits in yearling beef calves.

Design: Retrospective population-based cohort study.

Animals: 1,882 Angus calves.

Body composition and gene expression QTL mapping in mice reveals imprinting and interaction effects.

Background: Shifts in body composition, such as accumulation of body fat, can be a symptom of many chronic human diseases; hence, efforts have been made to investigate the genetic mechanisms that underlie body composition. For example, a few quantitative trait loci (QTL) have been discovered using genome-wide association studies, which will eventually lead to the discovery of causal mutations that are associated with tissue traits. Although some body composition QTL have been identified in mice, limited research has been focused on the imprinting and interaction effects that are involved in these traits.

Genome-wide association and prediction of direct genomic breeding values for composition of fatty acids in Angus beef cattle.

Background: As consumers continue to request food products that have health advantages, it will be important for the livestock industry to supply a product that meet these demands. One such nutrient is fatty acids, which have been implicated as playing a role in cardiovascular disease. Therefore, the objective of this study was to determine the extent to which molecular markers could account for variation in fatty acid composition of skeletal muscle and identify genomic regions that harbor genetic variation.

Genome-wide association study of infectious bovine keratoconjunctivitis in Angus cattle.

Background: Infectious Bovine Keratoconjunctivitis (IBK) in beef cattle, commonly known as pinkeye, is a bacterial disease caused by Moraxellabovis. IBK is characterized by excessive tearing and ulceration of the cornea. Perforation of the cornea may also occur in severe cases.

Goal conflict and goal facilitation as predictors of daily accelerometer-assessed physical activity.

Objective: To test whether perceptions of conflicting and facilitating personal goals, and actual daily time spent in their pursuit, predict accelerometer-assessed physical activity (PA).

Methods: A prospective multilevel design with a daily accelerometer-based assessment of PA over 1 week was used (N = 106). Participants' personal goals were elicited using personal projects analysis.

Whole genome analysis of infectious bovine keratoconjunctivitis in Angus cattle using Bayesian threshold models.

Infectious bovine keratoconjunctivitis (IBK), also known as pinkeye, is characterized by damage to the cornea and is an economically important, lowly heritable, categorical disease trait in beef cattle. Scores of eye damage were collected at weaning on 858 Angus cattle. SNP genotypes for each animal were obtained from BovineSNP50 Infinium-beadchips.

Association of toll-like receptor four single nucleotide polymorphisms with incidence of infectious bovine keratoconjunctivitis (IBK) in cattle.

Toll-like receptor 4 (TLR4) is a receptor protein that binds pathogen ligands, which are mainly associated with Gram-negative bacteria. The objective of this study was to investigate the association of nucleotide polymorphisms in TLR4 with infectious bovine keratoconjunctivitis (IBK), or pinkeye, incidence in American Angus cattle. Animals with previously calculated breeding values for IBK susceptibility were used to identify two SNPs in TLR4; Int1 (A/G) in intron1 (-26 Ex2 position) and Ex3 (C/T) in exon3 (1,678 position).