scholarly journals Research Article A DdeI polymorphism in the growth hormone gene is associated with higher lean meat yield and pH 45 min in postmortem pigs

2019 ◽  
Vol 18 (2) ◽  
Author(s):  
I.M. Ferreira ◽  
T.F. Braga ◽  
E.C. Guimarães ◽  
M.C. Durval ◽  
L.B. Mendes ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Gene ◽  
Meat Yield ◽  
Lean Meat ◽  
Research Article

scholarly journals The human growth hormone gene contains both positive and negative control elements.

1988 ◽  
Vol 263 (11) ◽  
pp. 5005-5007 ◽  
Author(s):  
L N Peritz ◽  
E J Fodor ◽  
D W Silversides ◽  
P A Cattini ◽  
J D Baxter ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Human Growth Hormone ◽  
Human Growth ◽  
Negative Control ◽  
Growth Hormone Gene ◽  
Human Growth Hormone Gene

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

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1128
Author(s):  
Marilena Nakaguma ◽  
Nathalia Garcia Bianchi Pereira Ferreira ◽  
Anna Flavia Figueredo Benedetti ◽  
Mariana Cotarelli Madi ◽  
Juliana Moreira Silva ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Male Patient ◽  
Missense Variant ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Incomplete Penetrance ◽  
Growth Hormone Gene ◽  
Posterior Lobe ◽  
Allelic Variants ◽  
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.

scholarly journals Association Between SSCP Haplotypes at the Bovine Growth Hormone Gene and Milk Protein Percentage

Genetics ◽  
1996 ◽  
Vol 142 (3) ◽  
pp. 945-951
Author(s):  
A Lagziel ◽  
E Lipkin ◽  
M Soller
Keyword(s):  
Growth Hormone ◽  
Candidate Gene ◽  
Milk Protein ◽  
Haplotype Analysis ◽  
Bos Taurus ◽  
Bovine Growth Hormone ◽  
Growth Hormone Gene ◽  
Protein Percentage ◽  
Quantitative Genetic ◽  
Positive Effect

Abstract The bovine Growth Hormone gene (bGH) is an attractive candidate gene for milk production in cattle. Single-strand conformation polymorphisms at bGH were identified and used to define haplotype configurations at this gene in the Israeli Holstein dairy cattle population (Bos taurus) and in the parent animals of the International Bovine Reference Family Panel (a collection of B. taurus and B. indicus crosses). B. taurus and B. indicus haplotypes at the bGH gene differed qualitatively, confirming the previously proposed long evolutionary separation of these cattle subraces. Only a small number of bGH haplotypes were present in the Israel Holstein population. One of the haplotypes, apparently of B. indicus origin, was found to have a highly significant positive effect on milk protein percentage. This illustrates the utility of the haplotype approach for uncovering candidate gene involvement in quantitative genetic variation in agricultural populations. The strong effect of an indicine haplotype in a taurine background raises the possibility that indicine alleles at other candidate genes may comprise a genetic resource for improvement of taurine populations. It is proposed that haplotype analysis may be a useful adjunct to measures of genetic distance for evaluating rare breeds with respect to gene conservation.

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