Czech J. Anim. Sci., 2016, 61(5):209-216 | DOI: 10.17221/34/2015-CJAS

Genetic variation, association analysis, and expression pattern of SMAD3 gene in Chinese cattleOriginal Paper

T. Shi1, Y. Xu1, M.-J. Yang1, Y. Zhou1, M. Liu1, X.-Y. Lan1, C.-Z. Lei1, X.-L. Qi2, F.-P. Lin2, Y.-Y. Bai3, H. Chen1
1 Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A&F University, Yangling, P.R. China
2 Bureau of Animal Husbandry of Biyang County, Biyang, P.R. China
3 Animal Health Supervision in Henan Province, Zhengzhou, P.R. China

SMAD3, a member of SMAD transcription factors, plays a key role in transforming growth factor-beta (TGF-β) signalling pathway and regulation of muscle growth. However, there was no strong evidence of association between SMAD3 polymorphisms and body traits in animals. In this study, single nucleotide polymorphisms (SNPs) in SMAD3 gene were detected in four Chinese cattle breeds (Qinchuan, Jiaxian, Nanyang, and Caoyuan) by using DNA pool sequencing and PCR-RFLP, and their effects on gene expression and growth traits were evaluated in Qinchuan cattle. The results showed that four novel SNPs (NC_007308.5 c.-2017A>G, g.101664C>G, g.105829A>G, and g.114523A>G) in promoter, intron 3, and intron 5 were found in four cattle breeds. NC_007308.5 c.-2017A>G and g.114523A>G were significantly (P < 0.05) associated with SMAD3 gene expression. Furthermore, the four SNPs were strikingly (P < 0.05) associated with rump length, chest girth, and body weight in two-year-old Qinchuan cattle. Our results provided the evidence that SNPs in SMAD3 were associated with cattle traits, which showed the possibility that the four SNPs could be novel molecular markers for beef cattle breeding and genetics.

Keywords: SMAD3 polymorphisms; mRNA level; body traits; bovine

Published: May 31, 2016  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Shi T, Xu Y, Yang M-J, Zhou Y, Liu M, Lan X-Y, et al.. Genetic variation, association analysis, and expression pattern of SMAD3 gene in Chinese cattle. Czech J. Anim. Sci. 2016;61(5):209-216. doi: 10.17221/34/2015-CJAS.
Download citation

Supplementary files:

Download file35-2015 Shi Supplement.pdf

File size: 303.63 kB

References

  1. Ardlie K.G., Kruglyak L., Seielstad M. (2002): Patterns of linkage disequilibrium in the human genome. Nature Reviews Genetics, 3, 299-309. Go to original source... Go to PubMed...
  2. Bonniaud P., Margetts P.J., Ask K., Flanders K., Gauldie J., Kolb M. (2005): TGF- and Smad3 signaling link inflammation to chronic fibrogenesis. Journal of Immunology, 175, 5390-5395. Go to original source... Go to PubMed...
  3. Choy L., Skillington J., Derynck R. (2000): Roles of autocrine TGF-β receptor and Smad signaling in adipocyte differentiation. The Journal of Cell Biology, 149, 667-681. Go to original source... Go to PubMed...
  4. Derynck R., Zhang Y.E. (2003): Smad-dependent and Smadindependent pathways in TGF-β family signalling. Nature, 425, 577-584. Go to original source... Go to PubMed...
  5. Fiocchi C. (2001): TGF-β/Smad signaling defects in inflammatory bowel disease: mechanisms and possible novel therapies for chronic inflammation. Journal of Clinical Investigation, 108, 523-526. Go to original source... Go to PubMed...
  6. Ge X., McFarlane C., Vajjala A., Lokireddy S., Ng Z.H., Tan C.K., Wahli W., Sharma M., Kambadur R. (2011): Smad3 signaling is required for satellite cell function and myogenic differentiation of myoblasts. Cell Research, 21, 1591-1604. Go to original source... Go to PubMed...
  7. Gilbert R.P., Bailey D.R.C., Shannon N.H. (1993): Linear body measurements of cattle before and after 20 years of selection for postweaning gain when fed two different diets. Journal of Animal Science, 71, 1712-1720. Go to original source... Go to PubMed...
  8. Greenwood T.A., Kelsoe J.R. (2003): Promoter and intronic variants affect the transcriptional regulation of the human dopamine transporter gene. Genomics, 82, 511-520. Go to original source... Go to PubMed...
  9. He H., Zhang H.L., Li Z.X., Liu Y., Liu X.L. (2014): Expression, SNV identification, linkage disequilibrium, and combined genotype association analysis of the musclespecific gene CSRP3 in Chinese cattle. Gene, 535, 17-23. Go to original source... Go to PubMed...
  10. Huang Y.Z., Zhang E.P., Chen H., Wang J., Li Z.J., Huai Y.T., Ma L., Lan X.Y., Ren G., Lei C.Z., Fang X.T., Wang J.Q. (2010): Novel 12-bp deletion in the coding region of the bovine NPM1 gene affects growth traits. Journal of Applied Genetics, 51, 199-202. Go to original source... Go to PubMed...
  11. Huang S., Yang S., Guo J., Yan S., Gaertig M.A., Li S., Li X.J. (2015): Large polyglutamine repeats cause muscle degeneration in SCA17 mice. Cell Reports, 13, 196-208. Go to original source... Go to PubMed...
  12. Liu D., Black B.L., Derynck R. (2001): TGF-β inhibits muscle differentiation through functional repression of myogenic transcription factors by Smad3. Genes and Development, 15, 2950-2966. Go to original source... Go to PubMed...
  13. Liu D., Kang J.S., Derynck R. (2004): TGF-β-activated Smad3 represses MEF2-dependent transcription in myogenic differentiation. The EMBO Journal, 23, 1557-1566. Go to original source... Go to PubMed...
  14. Lokireddy S., McFarlane C., Ge X., Zhang H., Sze S.K., Sharma M., Kambadur R. (2011): Myostatin induces degradation of sarcomeric proteins through a Smad3 signaling mechanism during skeletal muscle wasting. Molecular Endocrinology, 25, 1936-1949. Go to original source... Go to PubMed...
  15. McPherron A.C., Lee S.J. (2002): Suppression of body fat accumulation in myostatin-deficient mice. The Journal of Clinical Investigation, 109, 595-601. Go to original source... Go to PubMed...
  16. Nei M., Roychoudhury A. (1974): Sampling variances of heterozygosity and genetic distance. Genetics, 76, 379-390. Go to original source... Go to PubMed...
  17. Norton N., Williams N.M., O'Donovan M.C., Owen M. (2004): DNA pooling as a tool for large-scale association studies in complex traits. Annals of Medicine, 36, 146-152. Go to original source... Go to PubMed...
  18. Olson E.N. (1992): Interplay between proliferation and differentiation within the myogenic lineage. Developmental Biology, 154, 261-272. Go to original source... Go to PubMed...
  19. Perry R.L., Rudnicki M.A. (2000): Molecular mechanisms regulating myogenic determination and differentiation. Frontiers in Bioscience, 5, 750-767. Go to original source... Go to PubMed...
  20. Sambrook J., Russell D.W. (2001): Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, New York, USA.
  21. Shi Y.G., Massague J. (2003): Mechanisms of TGF-β signaling from cell membrane to the nucleus. Cell, 113, 685-700. Go to original source... Go to PubMed...
  22. Shi Y.Y., He L. (2005): SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Research, 15, 97-98. Go to original source... Go to PubMed...
  23. Sriram S., Subramanian S., Juvvuna P.K., Ge X., Lokireddy S., McFarlane C.D., Wahli W., Kambadur R., Sharma M. (2014): Myostatin augments muscle-specific ring finger protein-1 expression through an NF-kB independent mechanism in SMAD3 null muscle. Molecular Endocrinology, 28, 317-330. Go to original source... Go to PubMed...
  24. Van Laere A.S, Nguyen M., Braunschweig M., Nezer C., Collette C., Moreau L., Archibald A.L., Haley C.S., Buys N., Tally M., Andersson G., Georges M., Andersson L. (2003): A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig. Nature, 425, 832-836. Go to original source... Go to PubMed...
  25. Xu Y., Zhang L.Z, Shi T., Zhou Y., Cai H.F, Lan X.Y., Zhang C.L., Lei C.Z., Chen H. (2013): Copy number variations of MICAL-L2 shaping gene expression contribute to different phenotypes of cattle. Mammalian Genome, 24, 508-516. Go to original source... Go to PubMed...
  26. Yeh F.C., Yang R., Boyle T. (1999): POPGENE Version 3.1, Microsoft Window-based Freeware for Population Genetic Analysis. University of Alberta, Edmonton, Canada.
  27. Zhang L., Yang M., Li C., Xu Y., Sun J., Lei C., Lan X., Zhang C., Chen H. (2014): Identification and genetic effect of a variable duplication in the promoter region of the cattle ADIPOQ gene. Animal Genetics, 45, 171-179. Go to original source... Go to PubMed...

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY NC 4.0), which permits non-comercial use, distribution, and reproduction in any medium, provided the original publication is properly cited. No use, distribution or reproduction is permitted which does not comply with these terms.