Growth Hormone Gene Polymorphism and its Relation to Quail Growth and Carcass

In this study, it was aimed to determine the polymorphism of GH (growth hormone) gene in Japanese quails and the relationships between these genes and body weight and carcass traits. 3 genotypes (AA, AB and BB), 2 (A and B) alleles were detected by cutting the GH intron 1 region with restriction enzyme MspI. As a result of variance analysis, it was determined that the hatching weights of the animals with B allele and liver weights were higher. Thus, it is seen that GH gene and PCR-RFLP technique can be used in breeding studies.

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

We report four allelic variants (three novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, GH1 c.171delT (p.Phe 57Leufs*43), was found in a male patient with severe isolated growth hormone deficiency (IGHD) born to consanguineous parents. A hemizygous SOX3 allelic variant (p.Met304Ile) was found in a male patient with IGHD and hypoplastic anterior pituitary. YASARA, a tool to evaluate protein stability, suggests that p.Met304Ile destabilizes the SOX3 protein (ΔΔG = 2.49 kcal/mol). A rare, heterozygous missense variant in the TALE homeobox protein gene, TGIF1 (c.268C>T:p.Arg90Cys) was found in a patient with combined pituitary hormone deficiency (CPHD), diabetes insipidus, and syndromic features of holoprosencephaly (HPE). This variant was previously reported in a patient with severe holoprosencephaly and shown to affect TGIF1 function. A novel heterozygous TGIF1 variant (c.82T>C:p.Ser28Pro) was identified in a patient with CPHD, pituitary aplasia and ectopic posterior lobe. Both TGIF1 variants have an autosomal dominant pattern of inheritance with incomplete penetrance. In conclusion, we have found allelic variants in three genes in hypopituitarism patients. We discuss these variants and associated patient phenotypes in relation to previously reported variants in these genes, expanding our knowledge of the phenotypic spectrum in patient populations.

DAIRY PRODUCTIVITY OF FIRST COWS WITH DIFFERENT GENOTYPES BY GROWTH GENE

The aim of the study was to study the allelic polymorphism of the growth hormone gene in a group of cows of the Montbeliard breed and to search for associations of its different genotypes with the parameters of the dynamics of milk yield during lactation. The research was conducted in the Department of Animal Genetics and Biotechnology of the Institute of Animal Breeding and Genetics of NAAS on a group of 30 cows of the Montbeliard cattle breed from PSP "Zhadkivske" of Chernihiv region. Genomic DNA was isolated from blood leukocytes by standard methods using the set "DNA-sorb-B" ("Ampli-Sense", Russia). Dairy productivity of first-born cows was determined monthly by control milkings. Types of lactation curves were studied according to the method of A. S. Emelyanov (1953). Polymorphism of the growth hormone (GH) gene in our first-born cows is represented by two alleles L I V, the frequency of which differs, and the frequencies of genotypes differ accordingly. In the studied group of animals, all possible genotypes of the growth hormone gene were identified: 25 animals (83%) have the GHLL genotype, 4 (13%) have the GHLV genotype, and only one cow has the GHVV genotype. The frequency of the L allele is 0.9, and the V allele is 0.1. The mean expectation for 305 days of the first lactation of a group of cows with the GHLL genotype was 352 kg higher than the expectations in the group of heterozygous cows with the GHLV genotype. In terms of milk fat and protein yield, cows with GHLL genotype were significantly dominated by cows with GHLV genotypes (74 kg fat and 36 kg protein, respectively, p < 0.001). Analysis of the dynamics of monthly milk yield of the studied cows for 305 days of the first lactation showed that the productivity of cows with GHLL genotype exceeds the average monthly milk yield of other groups of animals at the beginning (from 1 to 3 months), at the peak of lactation (4th month) and at the end of lactation (from 8 to 10 months). In general, during the 305 days of the first lactation, first-borns with the GHLL genotype had better milk yields compared to their peers with other growth hormone gene genotypes. Analysis of variance showed that the obtained share of variability in milking in animals with different genotypes of the GH gene is due to random factors. Analysis of lactation curves of primiparous women showed that milk yield of cows with all variants of genotypes in the GH gene gradually increased and reached its peak at 3–4 months of lactation, and then gradually decreased. This lactation curve, according to the classification of A. S. Emelyanov is characteristic of animals with high and stable lactation, and cows are able to digest food well and produce high hopes. \ Thus, a statistically significant difference in quantitative and qualitative characteristics of milk productivity of cows of Montbeliard breed with different variants of genotypes by GH gene on the example of a group of cows from "Zhadkivske" Chernihiv region suggests that the use of genetic markers, in particular the growth hormone GH selection of selection and further formation of the herd in the direction of increasing milk productivity.

Allelic Variants in Established Hypopituitarism Genes Expands Our Knowledge of Phenotypic Spectrum

We report four allelic variants (3 novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, GH1 c.171delT (p. Phe 57Leufs * 43), was found in a male patient with severe isolated growth hormone deficiency (IGHD) born to consanguineous parents. A SOX3 allelic variant (p.Met304Ile) was found in a male patient with IGHD and hypoplastic anterior pituitary. YASARA, a tool to evaluate protein stability, suggests that p.Met304Ile destabilizes the SOX3 protein (&Delta;&Delta;G = 2.49 kcal/mol). A rare, heterozygous missense variant in the TALE homeobox protein gene, TGIF1 (c.268C&gt;T:p.Arg90Cys) was found in a patient with combined pituitary hormone deficiency (CPHD), diabetes insipidus, and syndromic features of holoprosencephaly (HPE). A novel heterozygous TGIF1 variant (c.82T&gt;C:p.Ser28Pro) was identified in a patient with CPHD, pituitary aplasia and ectopic posterior lobe. Both TGIF1 variants have an autosomal dominant pattern of inheritance with incomplete penetrance. In conclusion, we have found allelic variants in 3 genes in hypopituitarism patients. We discuss these variants and associated patient phenotypes in relation to previously reported variants in these genes, expanding our knowledge of the phenotypic spectrum in patient populations.

The growth hormone gene has evolved independently in African Pygmy Mouse Mus minutoides

Mus minutoides (the African pygmy mouse) is one of the smallest mammals. We determined the nucleotide sequence of the growth hormone (Gh) gene and the sequence of the putative coding region in M. minutoides, where is predicted to be distinct in the functional and transcriptional regulatory regions between M. minutoides and Mus musculus (the House mouse). To investigate the evolutionary characteristics of Gh in M. minutoides, we constructed a phylogenetic tree based on the putative amino acid sequences of Gh in M. musculus and mammals by neighbor-joining method, suggesting that Gh diverged relatively earlier than other Mus genus and may have evolved independently in M. minutoides. Furthermore, analysis of Gh gene expression levels showed a tendency to be higher in M. minutoides than in M. musculus. Our results suggest that Gh may have evolved independently in M. minutoides and may have different functions and signaling in Mus genus.

DNA Markers for Meat Quality of Pigs

This paper presents the results of determining genotypes of 3-breed pig hybrids (Landrace x Yorkshire x Duroc) by marker genes MC4R (melanocortin receptor-4 gene), IGF2 (insulinoid growth factor-2), POU1F1 (pituitary transcription factor), H-FABP (protein gene binding fatty acids), GH (growth hormone gene), LEP (leptin gene) and their interrelation with meat productivity. Allele frequencies for the studied genes were determined (MC4R: А = 0.58, G = 0.42; IGF2: Q = 0.96, q = 0.04; POU1F1: Е = 0.66, F = 0.34; H-FABP: D = 0.38, d = 0.62; GH: А = 0.26, G = 0.74; LEP: С = 0.27, Т = 0.73). The study showed that 3-breed hybrids did not have the highest level of heterozygosity in most allelic genes. MC4R (AG = 48%), POU1F1 (EF = 68%) and H-FABP (Dd = 52%) genes had the greatest number of heterozygotes; IGF2 (QQ = 92%), GH (GG = 58%) and LEP (TT = 56%) genes had the greatest number of homozygotes. The data showed that the breeds used to obtain three-breed hybrids were selected for analogous (meat quality) traits and that they had a higher frequency of the desired Q (IGF2), G (GH) and T (LEP) gene alleles, which were lost from hybrids in the homozygous condition. We identified the most desirable genotypes for the studied genes (GGMC4R, AGMC4R, QQIGF2, EFPOU1F1, DDH-FABP, AAGH, CTLEP) which are recommended for pig selection as well as for selection of parent pairs for producing commercial hybrids with high meat productivity. Keywords: gene-dependent selection, slaughter and meat qualities of pigs, marker genes, MC4R, IGF2, POU1F1, H-FABP, GH, LEP