Two Novel SNPs in  RET  Gene Are Associated with Cattle Body Measurement Traits

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The aim of this study was to identify crucial genes and markers potentially associated with cattle economic traits which would provide a basis for molecular marker-assisted breeding and assist in the genetic selection of cattle. The RET gene plays an important role in the development of the gastrointestinal nervous system, which may influence animal body measurement by nutrient absorption. However, there have been no reports on the effects of the RET gene on the body measurement traits of cattle. Two novel SNPs (c.1407A>G and c.1425C>G) were identified in this study, which were significantly associated with the body measurement of two Chinese cattle breeds (Qinchuan and Nanyang cattle). The results suggest that c.1407A>G and c.1425C>G can be used in cattle growth-related traits marker-assisted selection breeding.

Abstract

The rearrangement of the transfection ( RET) gene, which mediates the functions of the ganglion in the gastrointestinal tract, plays an important role in the development of the gastrointestinal nervous system. Therefore, the RET gene is a potential factor influencing animal body measurement. The aim of this study was to reveal the significant genetic variations in the bovine RET gene and investigate the relationship between genotypes and body measurement in two Chinese cattle breeds (Qinchuan and Nanyang cattle). In this study, two SNPs (c.1407A>G and c.1425C>G) were detected in the exon 7 of RET gene by sequencing. For the SNP1 and SNP2, the GG genotype was significantly associated with body height, hip height, and chest circumference in Qinchuan cattle ( p < 0.05). Individuals with an AG-CC genotype showed the lowest value of all body measurement in both breeds. Our results demonstrate that the polymorphisms in the bovine RET gene were significantly associated with body measurement, which could be used as DNA marker on the marker-assisted selection (MAS) and improve the performance of beef cattle.

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A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

Kevin Bush, D. Green, D Cutler … (2005)

The identification of common variants that contribute to the genesis of human inherited disorders remains a significant challenge. Hirschsprung disease (HSCR) is a multifactorial, non-mendelian disorder in which rare high-penetrance coding sequence mutations in the receptor tyrosine kinase RET contribute to risk in combination with mutations at other genes. We have used family-based association studies to identify a disease interval, and integrated this with comparative and functional genomic analysis to prioritize conserved and functional elements within which mutations can be sought. We now show that a common non-coding RET variant within a conserved enhancer-like sequence in intron 1 is significantly associated with HSCR susceptibility and makes a 20-fold greater contribution to risk than rare alleles do. This mutation reduces in vitro enhancer activity markedly, has low penetrance, has different genetic effects in males and females, and explains several features of the complex inheritance pattern of HSCR. Thus, common low-penetrance variants, identified by association studies, can underlie both common and rare diseases.

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Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Eileen Sproat Emison, Merce Garcia-Barcelo, Elizabeth Grice … (2010)

The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase RET. In a study of 690 European- and 192 Chinese-descent probands and their parents or controls, we demonstrate the ubiquity of a >4-fold susceptibility from a C-->T allele (rs2435357: p = 3.9 x 10(-43) in European ancestry; p = 1.1 x 10(-21) in Chinese samples) that probably arose once within the intronic RET enhancer MCS+9.7. With in vitro assays, we now show that the T variant disrupts a SOX10 binding site within MCS+9.7 that compromises RET transactivation. The T allele, with a control frequency of 20%-30%/47% and case frequency of 54%-62%/88% in European/Chinese-ancestry individuals, is involved in all forms of HSCR. It is marginally associated with proband gender (p = 0.13) and significantly so with length of aganglionosis (p = 7.6 x 10(-5)) and familiality (p = 6.2 x 10(-4)). The enhancer variant is more frequent in the common forms of male, short-segment, and simplex families whereas multiple, rare, coding mutations are the norm in the less common and more severe forms of female, long-segment, and multiplex families. The T variant also increases penetrance in patients with rare RET coding mutations. Thus, both rare and common mutations, individually and together, make contributions to the risk of HSCR. The distribution of RET variants in diverse HSCR patients suggests a "cellular-recessive" genetic model where both RET alleles' function is compromised. The RET allelic series, and its genotype-phenotype correlations, shows that success in variant identification in complex disorders may strongly depend on which patients are studied. Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Mutations of the RET proto-oncogene in Hirschsprung's disease.

Lukas E. Dow, R Michael Mulligan, A Tullio-Pelet … (1994)

Hirschsprung's disease (HSCR) is a common condition (1 in 5,000 live births) resulting in intestinal obstruction in neonates and megacolon in infants and adults. This disease has been ascribed to the absence of autonomic ganglion cells, which are derived from the neural crest, in the terminal hindgut. Segregation analyses have suggested incompletely penetrant dominant inheritance in familial HSCR. Recently, a gene for HSCR has been mapped to chromosome 10q11.2 (refs 6, 7). No recombination was observed between the disease locus and the locus for the RET proto-oncogene, a protein tyrosine kinase gene expressed in the cells derived from the neural crest. Here we report nonsense and missense mutations in the extracellular domain of RET protein (exons 2, 3, 5 and 6) in six unrelated probands and show that the mutant genotypes segregate with the disease in HSCR families. Mutations of RET have been previously reported in multiple endocrine neoplasia type 2A (MEN 2A). Thus, germ-line mutations of the RET gene may contribute either to developmental anomalies in HSCR or to inherited predisposition to cancer in MEN 2A.

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Author and article information

Journal

Journal ID (nlm-ta): Animals (Basel)

Journal ID (iso-abbrev): Animals (Basel)

Journal ID (publisher-id): animals

Title: Animals : an Open Access Journal from MDPI

Publisher: MDPI

ISSN (Electronic): 2076-2615

Publication date (Electronic): 21 October 2019

Publication date Collection: October 2019

Volume: 9

Issue: 10

Electronic Location Identifier: 836

Affiliations

[1 ]Key Laboratory of Animal Genetics, Breeding and Reproduction of Shaanxi Province, College of Animal Science and Technology, Northwest A&F University, Yangling, Xianyang 712100, Shaanxi, China; gaoyuan710@ 123456nwsuaf.edu.cn (Y.G.); 18821700428@ 123456163.com (F.B.); 18392360732@ 123456163.com (F.W.); 15636110299@ 123456163.com (Z.Z.); lzy18408210600@ 123456126.com (Z.L.); lsp17782767206@ 123456163.com (S.L.); leichuzhao1118@ 123456126.com (C.L.)

[2 ]Yunnan Academy of Grassland and Animal Science, Kunming 650212, China; hbz@ 123456ynbp.cn (B.H.); kaixqu@ 123456163.com (K.Q.)

[3 ]Institute of Animal Science and Veterinary Medicine, Anhui Academy of Agriculture Science, Hefei 230001, China; yutang2018@ 123456163.com

Author notes

[* ]Correspondence: dangruihua@ 123456nwsuaf.edu.cn ; Tel.: +86-0298-709-210

[†]

These authors contributed equally to this work.

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Ruihua Dang https://orcid.org/0000-0002-4818-5871

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Publisher ID: animals-09-00836

DOI: 10.3390/ani9100836

PMC ID: 6826558

PubMed ID: 31640119

SO-VID: dad40b56-a22a-4904-987d-850250c8beae

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Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

Two Novel SNPs in RET Gene Are Associated with Cattle Body Measurement Traits

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Most cited references 26

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Mutations of the RET proto-oncogene in Hirschsprung's disease.

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