Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Polymorphisms in intron 1 of the porcinePOU1F1 gene

Abstract

This study was conducted to detect polymorphisms in intron 1 of porcinePOU1F1 (POU domain, class 1, transcription factor1, Pit1, renamed asPOU1F1) by comparative sequencing. Within the intron, 23 sites of variation were identified, including 16 single-nucleotide substitutions, 4 single-nucleotide indels, 2 short (3-bp and 17-bp), and one long (313-bp) indels. Several important regulatory motifs were found within the 313-bp indel byin silico analysis. The 313-bp indel was next genotyped in 11 Chinese native pig breeds and 4 western meat-type pig breeds. The appearance of genotypes varied between breeds: among Chinese native breeds, no AA and AB genotypes were found in Tibetan, Lingao, Min, Rongchang, and Songliao Black pigs, no AA genotype was found in Fenjing and Leping Spotted pigs, whereas in Pietrain and Landrace there were no BB genotypes, and all 19 Duroc pigs were AA homozygotes. The western meat-type pigs had high A allele frequencies and the Chinese pigs had more B alleles, except Jianquhai pigs. A positive association of the AA genotype with birth weight was observed in a commercial pig line. This paper demonstrated that the genetic variation in intron 1 of the pigPOU1F1 gene was high and these polymorphisms may provide useful makers for QTL analysis.

This is a preview of subscription content, log in to check access.

References

  1. Brunsch C, Sternstein I, Reinecke P, Bieniek J, 2002. Analysis of associations ofPIT1 genotypes with growth, meat quality and carcass composition traits in pigs. J Appl Genet 43: 85–91.

  2. Chung HO, Kato T, Tomizawa K, Kato Y, 1998. Molecular cloning ofPit-1 cDNA from porcine anterior pituitary and its involvement in pituitary stimulation by growth hormone releasing. Exp Clin Endocrinol Diabetes 106: 203–210.

  3. Cohen LE, Wondisford FE, Radovick S, 1996. Role of Pit-1 in the gene expression of growth hormone, prolactin and thyrotropin. Endocrinol Metab Clin North Am 25: 523–540.

  4. Hendriks-Stegeman BI, Augustijn KD, Bakker B, et al. 2001. Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of thePit1/POU1F1 gene. J Clin Endocrinol Metab 86: 1545–1550.

  5. Kondrashov FA, Koonin EV, 2003. Evolution of alternative splicing: deletions, insertions and origin of functional parts of proteins from intron sequences. Trends Genet 19: 115–119.

  6. Majewski J, Ott J, 2002. Distribution and characterization of regulatory elements in the human genome. Genome Res 12: 1827–1836.

  7. Moody DE, Pomp D, Newman S, MacNeil M, 1996. Characterization of DNA polymorphisms in three populations of Hereford cattle and their associations with growth and maternal EPD in line 1 Herefords. J Anim Sci 74: 1784–1793.

  8. Renaville R, Gengler N, Vrech E, Prandi A, Massart S, Corradini C, et al. 1997.PIT1 gene polymorphism, milk yield and conformation traits for Italian Hol-stein-Friesian bulls. J Dairy Sci 80: 3431–3438.

  9. Song CY, Gao B, Teng Y, Wang XY, et al. 2005.MspI polymorphisms in the 3rd intron of the swinePOU1F1 gene and their associations with growth performance. J Appl Genet 46: 285–289.

  10. Sturm RA, Herr W, 1988. The POU domain is a bipartite DNA-binding structure. Nature 336: 60–604.

  11. Yu TP, Sun HS, Wahls S, Sanchez-Serrano I, Rothschild MF, Tuggle CK, 2001. Cloning of the full-length pigPIT1 (POU1F1) cDNA and a novel alternativePIT1 transcript, and functional studies of their encoded proteins. Anim Biotechnol 12: 1–19.

  12. Yu TP, Tuggle CK, Schmitz CB, Rothschild MF, 1995. Association ofPIT1 polymorphisms with growth and carcass traits in pigs. J Anim Sci 73: 1282–1288.

  13. Yu TP, Wang L, Tuggle CK, Rothschild MF, 1999. Mapping genes for fatness and growth on pig chromosome 13: a search in the region close to the pigPIT1 gene. J Anim Breed Genet 116: 269–280.

Download references

Author information

Correspondence to Cheng-Yi Song.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Song, C., Gao, B., Teng, S. et al. Polymorphisms in intron 1 of the porcinePOU1F1 gene. J Appl Genet 48, 371–374 (2007). https://doi.org/10.1007/BF03195234

Download citation

Keywords

  • early growth traits
  • genotyping
  • intron 1
  • pig
  • polymorphism
  • Pit1
  • POU1F1