So far in this course we have dealt entirely with the evolution of characters that are controlled by simple Mendelian inheritance at a single locus. There are notes on the course website about gametic disequilibrium and how allele frequencies change at two loci simultaneously, but we didn’t discuss them. In every example we’ve considered we’ve imagined that we could understand something about evolution by examining the evolution of a single gene. That’s the domain of classical population genetics. For the next few weeks we’re going to be exploring a field that’s actually older than classical population genetics, although the approach we’ll be taking to it involves the use of population genetic machinery. If you know a little about the history of evolutionary biology, you may know that after the rediscovery of Mendel’s work in 1900 there was a heated debate between the “biometricians” (e.g., Galton and Pearson) and the “Mendelians” (e.g., de Vries, Correns, Bateson, and Morgan). Biometricians asserted that the really important variation in evolution didn’t follow Mendelian rules. Height, weight, skin color, and similar traits seemed to

Human biochemical genetics

Summary A cattle database of candidate genes and genetic markers for milk production and mastitis has been developed to provide an integrated research tool incorporating different types of information supporting a genomic approach to study lactation, udder development and health. The database contains 943 genes and genetic markers involved in mammary gland development and function, representing candidates for further functional studies. The candidate loci were drawn on a genetic map to reveal positional overlaps. For identification of candidate loci, data from seven different research approaches were exploited: (i) gene knockouts or transgenes in mice that result in specific phenotypes associated with mammary gland (143 loci); (ii) cattle QTL for milk production (344) and mastitis related traits (71); (iii) loci with sequence variations that show specific allele-phenotype interactions associated with milk production (24) or mastitis (10) in cattle; (iv) genes with expression profiles associated with milk production (207) or mastitis (107) in cattle or mouse; (v) cattle milk protein genes that exist in different genetic variants (9); (vi) miRNAs expressed in bovine mammary gland (32) and (vii) epigenetically regulated cattle genes associated with mammary gland function (1). Fourty-four genes found by multiple independent analyses were suggested as the most promising candidates and were further in silico analysed for expression levels in lactating mammary gland, genetic variability and top biological functions in functional networks. A miRNA target search for mammary gland expressed miRNAs identified 359 putative binding sites in 3¢UTRs of candidate genes.

/pdf/database-of-cattle-candidate-genes-and-genetic-markers-for-2aknzys88f.pdf

Database of cattle candidate genes and genetic markers for milk production and mastitis.

Fatty acids (FAs) of milk fat are considered to be important nutritional components of the diets of a significant portion of the human population and substantially affect human health. With regard to dairy farming, the FA profile is also seen as an important factor in the technological quality of raw milk. In this sense, making targeted modifications to the FA profile has the potential to significantly contribute to the production of dairy products with higher added value. Thus, FAs also have economic importance. Current developments in analytical methods and their increasing efficiency enable the study of FA profiles not only for scientific purposes but also in terms of practical technological applications. It is important to study the sources of variability of FAs in milk, which include population genetics, type of farming, and targeted animal nutrition. It is equally important to study the health and technological impacts of FAs. This review summarizes current knowledge in the field regarding sources of FA variability, including the impact of factors such as: animal nutrition, seasonal feed changes, type of animal farming (conventional and organic), genetic parameters (influence of breed), animal individuality, lactation, and milk yield. Potential practical applications (to improve food technology and consumer health) of FA profile information are also reviewed.

https://www.mdpi.com/1420-3049/23/7/1636/pdf/1

Role of Fatty Acids in Milk Fat and the Influence of Selected Factors on Their Variability-A Review.

Diverse commensal populations are now regarded as key to physiological homeostasis and protection against disease. Although bacteria are the most abundant component of microbiomes, and the most intensively studied, the microbiome also consists of viral, fungal, archael, and protozoan communities, about which comparatively little is known. Host-defense peptides (HDPs), originally described as antimicrobial, now have renewed significance as curators of the pervasive microbial loads required to maintain homeostasis and manage microbiome diversity. Harnessing HDP biology to transition away from non-selective, antibiotic-mediated treatments for clearance of microbes is a new paradigm, particularly in veterinary medicine. One family of evolutionarily conserved HDPs, β-defensins which are produced in diverse combinations by epithelial and immune cell populations, are multifunctional cationic peptides which manage the cross-talk between host and microbes and maintain a healthy yet dynamic equilibrium across mucosal systems. They are therefore key gatekeepers to the oral, respiratory, reproductive and enteric tissues, preventing pathogen-associated inflammation and disease and maintaining physiological normality. Expansions in the number of genes encoding these natural antibiotics have been described in the genomes of some species, the functional significance of which has only recently being appreciated. β-defensin expression has been documented pre-birth and disruptions in their regulation may play a role in maladaptive neonatal immune programming, thereby contributing to subsequent disease susceptibility. Here we review recent evidence supporting a critical role for β-defensins as farmers of the pervasive and complex prokaryotic ecosystems that occupy all body surfaces and cavities. We also share some new perspectives on the role of β-defensins as sensors of homeostasis and the immune vanguard particularly at sites of immunological privilege where inflammation is attenuated.

/pdf/b-defensins-farming-the-microbiome-for-homeostasis-and-21cww9kn2w.pdf

β-Defensins: Farming the Microbiome for Homeostasis and Health.

Molecular markers and their applications in cattle genetic research: A review

The study included 124 Polish Black-and-White dairy cows of various share of the Holstein-Friesian (HF) breed. Lactoferrin (LTF) gene polymorphism was obtained with PCR-RFLP method using EcoRI enzyme. Two alleles of LTF, A and B, were found in the studied population. Their frequencies were 67.74% and 32.56%, respectively. The alleles controlled the occurrence of three genotypes: AA, BB and AB, of frequencies equal to 37.90%, 2.42% and 59.68%, respectively. It was established that statistically significant associations exist between the somatic cell count (SCC) and LTF genotype, lactation month and parity as well as the HF gene share. No significant association was found between somatic cell count and season. The highest somatic cell count (trans- formed to a logarithmic scale) was found in milk of the AB genotype, whereas the lowest one was found in cows of the AA genotype.

/pdf/associations-between-bovine-lactoferrin-gene-polymorphism-3oqpxe15s6.pdf

Associations between bovine lactoferrin gene polymorphism and somatic cell count in milk

A total of 129 Limousin calves were used to investigate how leptin gene polymorphisms affect growth traits, such as body weight, average daily gain, wither height, sacrum height and chest girth in beef cattle. Two single nucleotide polymorphisms (SNPs) were genotyped, including the Sau3AI polymorphism in intron 2 and the A59V polymorphism in exon 3. The genotype and allele frequencies for each SNP and the haplotype frequencies for both SNPs were estimated in the studied herd. Statistical analysis revealed that the A59V polymorphism significantly affected the body weight at 210 days of age (P ≤ 0.01) and the average daily gain between 3 and 210 days of age (P ≤ 0.05) with T as a desirable allele. No associations were observed between the Sau3AI polymorphism and the growth traits mentioned above. However, the average daily gain between 3 and 210 days of age was significantly higher in the CT/CT haplotype animals compared with the CC/CC and CC/CT individuals. These results indicated that selection for the A59V TT animals might contribute to an improved body weight in Limousin cattle.

Association between leptin gene polymorphisms and growth traits in Limousin cattle.

. Associations between polymorphism of the bovine growth hormone releasing hormone (GHRH) and pituitary transcription factor 1 (PIT1) genes and production traits of Limousine cattle were analysed. A total of 130 calves were included in the study. PCR-RFLP method was used for genotyping. The frequencies of genotypes and alleles of PIT1 and GHRH were as follows: 0.0692 – AA, 0.4077 – AB, 0.5231 – BB, and 0.2731 for PIT1A, 0.7269 for PIT1B; 0.0154 – AA, 0.1692 – AB, 0.8154 – BB, and 0.1 for GHRHA, 0.9 for GHRHB. Associations between polymorphism and production traits of Limousine calves were found. Statistically significant differences (P ≤ 0.01) between individuals of different GHRH genotypes were found in relation to height at sacrum (cm) and height at withers (cm) at 210th day of age. The calves with AA genotype of GHRH were shorter (−8,14 and −8,33 cm) than AB and BB individuals (P ≤ 0.01). The small number of calves with the AA genotype did not enable important conclusions.

/pdf/associations-between-polymorphisms-of-growth-hormone-2b4o7elkq1.pdf

Associations between polymorphisms of growth hormone releasing hormone (GHRH) and pituitary transcription factor 1 (PIT1) genes and production traits of Limousine cattle

The prolactin receptor gene (PRLR), located on chromosome 16 in pigs, is a candidate gene for reproductive traits. The experiment was aimed to detect the DNA mutations in this gene and to find probable relations between the genotype and some reproductive traits in boars. The polymorphism in thePRLR gene was identified by PCR-RFLP method using specific primers and the restriction enzymeAluI. In total 229 boars of various breeds were genotyped. The frequency of allele A was estimated at 0.62 and allele B at 0.38. Genotype AA was found at a frequency of 0.45, AB at 0.35 and BB at 0.20. We found associations betweenPRLR genotype and ejaculate volume, sperm concentration, percentage of live sperm, and number of live sperm in the ejaculate (P < 0.01).

Associations between the prolactin receptor gene polymorphism and reproductive traits of boars.

The aim of this study was to investigate associations between PPARGC1A genotypes and hap - lotypes and milk production traits. The study included 181 Jersey cows. The genotypes were identified by the PCR-RFLP method. The frequencies of the most common alleles were as follows: T - 0.63 (c.1892T>C) and A - 0.88 (c.3359A>C). The frequency of the most common haplotype was TC/AA - 0.558. The results showed that there were no statistically significant associations between the individual genotypes of both S nPs and milk traits; however, individuals with the CC/AC haplotype produced significantly ( P ≤ 0.05; P ≤ 0.001) less milk and had a significantly ( P ≤ 0.001) higher protein content in milk.

/pdf/associations-between-the-bovine-ppargc1a-gene-and-milk-4arif3ut10.pdf

Associations between the bovine PPARGC1A gene and milk production traits

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