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LHX4 is a LIM homeodomain transcription factor involved in pituitary ontogenesis. Some mutations of LHX4 are associated with combined pituitary hormone deficiency that affects growth and development in animal. The objective of this study is revealing to these polymorphisms of in LHX4 gene exons 1, 2, 3 in 820 Chinese cattle and to assess possible association of polymorphisms in LHX4 gene with growth traits in NY breed. The PCR-SSCP and DNA sequencing of LHX4 gene showed five novel synonymous mutations: (GenBank: NW_001493442.2: g.35143G >A, g.35152C>T, g.35212C>T, g.35230G>A, g.35233T>C). Genotype MM (GG-CC-CC-GG-TT) and haplotype M (G-C-C-G-T) were dominant in the four breeds, and genotype frequencies of LHX4 in the four cattle populations agreed with Hardy-Weinberg equilibrium (P>0.05), although their frequencies significantly differed among the four analyzed populations (***P<0.001). The association analysis showed that individuals with genotype MM had greater body weight than those with genotype MN (*P<0.05) at eighteen months of age in Nanyang cattle.
The nucleophosmin 1 gene (NPM1) encodes a multifunctional nucleolar phosphoprotein that plays a crucial role in the control of various aspects of cell growth and homeostasis. In this study, the coding region of the NPM1 gene was screened in 1035 individuals of 4 Chinese cattle breeds by DNA sequencing and Polyacrylamide gel electrophoresis. A novel 12-bp deletion mutation was identified in the coding region of the NPM1 gene. The PCR products of primer NPM1-P2 exhibited 3 genotypes and 2 alleles: 178 bp (denoted as W) and 166 bp (denoted as D). Genotype DD and allele D were predominant in the studied populations. Association analysis with growth traits in the Nanyang breed (N = 265) showed that the animals with genotype DD had significantly greater birth weight, body weight, body length, and heart girth than those with genotype WD (P <0.01 or P < 0.05) at birth and after 6 months and 12 months, but not at 18 and 24 months of age. Results of this study suggest that the NPM1 gene is a candidate gene for growth traits in cattle.
The progress in molecular genetics in animal breeding is moderately effective as compared to traditional animal breeding using quantitative genetic approaches. There is an extensive disparity between the number of reported quantitative trait loci (QTLs) and their linked genetic variations in cattle, pig, and chicken. The identification of causative mutations affecting quantitative traits is still very challenging and hampered by the cloudy relationship between genotype and phenotype. There are relatively few reports in which a successful identification of a causative mutation for an animal production trait was demonstrated. The examples that have attracted considerable attention from the animal breeding community are briefly summarized and presented in a table. In this mini-review, the recent progress in mapping quantitative trait nucleotides (QTNs) are reviewed, including the ABCG2 gene mutation that underlies a QTL for fat and protein content and the ovine MSTN gene mutation that causes muscular hypertrophy in Texel sheep. It is concluded that the pi ogress in molecular genetics might facilitate the elucidation of the genetic architecture of QTLs, so that also the high-hanging fruits can be harvested in order to contribute to efficient and sustainable animal production.
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