1. bookVolume 17 (2017): Issue 2 (May 2017)
Journal Details
First Published
25 Nov 2011
Publication timeframe
4 times per year
access type Open Access

Associations of six SNPs of POU1F1-PROP1-PITX1-SIX3 pathway genes with growth traits in two Chinese indigenous goat breeds

Published Online: 28 Apr 2017
Volume & Issue: Volume 17 (2017) - Issue 2 (May 2017)
Page range: 399 - 411
Received: 07 Feb 2016
Accepted: 11 Oct 2016
Journal Details
First Published
25 Nov 2011
Publication timeframe
4 times per year

In the process of anterior pituitary gland development and maturation, numerous transcription factors were involved in the pituitary organogenesis. To date, the lack of knowledge on POU1F1-PROP1-PITX1-SIX3 pathway genes affecting growth traits was reported in Chinese goat breeds. The objective of this work was to identify genetic variants of the POU1F1, PROP1, PITX1 and SIX3 genes, as well as to evaluate their associations with growth traits in goats. The results showed that one novel and five reported single nucleotide polymorphisms (SNP) were confirmed in above four genes. The novel SNP (NC_019460.2:g.1100T>A) was located in intron 1 of SIX3 gene. Among these loci, DQ826397.1:g.102T>G (SNP1), DQ826397.1:g.279T>C (SNP2) and NC_019460.2:g.1100T>A (SNP6) were associated with growth traits. In details, the SNP1 locus had significant association with hucklebone width (P<0.05) and hucklebone width index (P<0.05) in the Guanzhong dairy goat. The SNP2 locus was associated with body weight (P<0.05), chest circumference (P<0.01), chest width (P<0.05), hucklebone width (P<0.05), cannon circumference (P<0.01) and trunk index (P<0.01) in the Hainan black goat. The SNP6 locus was significantly associated with hucklebone width index (P<0.05) and chest width (P<0.05) in the Guanzhong dairy goat and Hainan black goat, respectively. These findings indicated that goat POU1F1-PROP1-PITX1-SIX3 pathway genes were important genetic factors, which could affect growth traits. Three SNPs detected in this study may be useful for potential marker-assisted selection programs in goat breeding and production.


Ahlawat S., Sharma R., Maitra A., Tantia M.S. (2015). Current status of molecular genetics research of goat fecundity. Small Ruminant Res., 125: 34-42.Search in Google Scholar

Ahmadi M.M., Mirzaei A., Sharifiyazdi H., Hajibemani A., Ghasrodashti A.R. (2015). Pituitary-specific transcription factor 1 (Pit-1) polymorphism and its association on milk production and some reproductive performance in Holstein dairy cows. Rev. Med. Vet., 166: 127-131.Search in Google Scholar

Baş F., Uyguner Z.O., Darendeliler F., Aycan Z., Çetinkaya E., Berberoğlu M., Şiklar Z., Öcal G., Darcan Ş., Gökşen D., Topaloğlu A.K., Yüksel B., Özbek M.N., Ercan O., Evliyaoğlu O., Çetinkaya S., Şen Y., Atabek E., Toksoy G., Aydin B.K., Bundak R. (2015). Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency:amulticenter study. Endocrine, 49: 479-491.Search in Google Scholar

Castinetti F., Brinkmeier M.L., Gordon D.F., Vella K.R., Kerr J.M., Mortensen A.H., Hollenberg A., Brue T., Ridgway E.C., Camper S.A. (2011). PITX2 and PITX1 regulate thyrotroph function and response to hypothyroidism. Mol. Endocrinol., 25: 1950-1960.Search in Google Scholar

Chang M.S., Han J.C., Lee J., Kwun Y., Huh R., Ki C.S., Kee C., Cho S.Y., Jin D.K. (2015). Anovel splice site mutation in the PAX6 gene ina Korean family with isolated aniridia. Ann. Clin. Lab. Sci., 45: 90-93.Search in Google Scholar

Clark D.L., Clark D.I., Beever J.E., Dilger A.C. (2015). Increased prenatal IGF2 expression due to the porcine intron3-G3072Amutation may be responsible for increased muscle mass. J. Anim. Sci., 93: 2546-2558.Search in Google Scholar

Cohen L.E., Wondisford F.E., Radovick S. (1997). Role of Pit-1 in the gene expression of growth hormone, prolactin, and thyrotropin. Endocrin. Metab. Clin., 25: 523-540.Search in Google Scholar

Daga C., Paludo M., Luridiana S., Mura M.C., Bodano S., Pazzola M., Dettori M.L., Vacca G.M., Carcangiu V. (2013). Identification of novel SNPs in the Sarda breed goats POU1F1 gene and their association with milk productive performance. Mol. Biol. Rep., 40: 2829-2835.Search in Google Scholar

Emigh T.H. (1980). Acomparison of tests for Hardy-Weinberg equilibrium. Biometrics, 36: 627-642.Search in Google Scholar

Fang X.T., Xu H.X., Zhang C.L., Zhang J.M., Lan X.Y., Gu C.W., Chen H. (2010). Polymorphisms in BMP-2 gene and their associations with growth traits in goats. Genes Genom., 32: 29-35.Search in Google Scholar

Feng T., Chu M.X., Cao G.L., Tang Q.Q., Di R., Fang L., Li N. (2012). Polymorphisms of caprine POU1F1 gene and their association with litter size in Jining Grey goats. Mol. Biol. Rep., 39: 4029-4038.Search in Google Scholar

Huai Y.T., Lan X.Y., Ma L., Wang J., Lei C.Z., Chen H., Wang J.Q. (2011). Novel mutation in TGAstop-codon of bovine SIX6 gene. Mol. Biol., 45: 218-224.Search in Google Scholar

Jalil-Sarghale A., Shahrbabak M.M., Sharbabak H.M., Sadeghi M., Mura M.C. (2014). Association of pituitary specific transcription factor-1 (POU1F1) gene polymorphism with growth and biometric traits and blood metabolites in Iranian Zel and Lori-Bakhtiari sheep. Mol. Biol. Rep., 41: 5787-5792.Search in Google Scholar

Kim G.W., Yoo J.Y., Kim H.Y. (2014). Association of genotype of POU1F1 intron 1 with carcass characteristics in crossbred pigs. J. Anim. Sci. Technol., 56: 25.Search in Google Scholar

Lan X.Y., Pan C.Y., Chen H., Lei C.Z., Hua L.S., Yang X.B., Qiu G.Y., Zhang R.F., Lun Y.Z. (2007 a). Dde Ipolymorphism in coding region of goat POU1F1 gene and its association with production traits. Asian Austral. J. Anim. Sci., 20: 1342-1348.10.5713/ajas.2007.1342Search in Google Scholar

Lan X.Y., Pan C.Y., Chen H., Zhang C.L., Li J.Y., Zhao M., Lei C.Z., Zhang A.L., Zhang L. (2007 b). An Alu I PCR-RFLPdetectingasilent allele at the goat POU1F1 locus and its association with production traits. Small Ruminant Res., 73: 8-12.10.1016/j.smallrumres.2006.10.009Search in Google Scholar

Lan X.Y., Pan C.Y., Zhang L.Z., Zhao M., Zhang C.L., Lei C.Z., Chen H. (2009 a). Anovel missense (A79V) mutation of goat PROP1 gene and its association with production traits. Mol. Biol. Rep., 36: 2069-2073.10.1007/s11033-008-9418-x19031010Search in Google Scholar

Lan X.Y., Shu J.H., Chen H., Pan C.Y., Lei C.Z., Wang X., Liu S.Q., Zhang Y.B. (2009 b). A Pst Ipolymorphism at 3’UTRof goat POU1F1 gene and its effect on cashmere production. Mol. Biol. Rep., 36: 1371-1374.10.1007/s11033-008-9322-418654839Search in Google Scholar

Lan X.Y., Huai Y.T., Pan C.Y., Wang J., Huang Y.Z., Lei C.Z., Chen H. (2011). Novel genetic variants of sine oculis homeobox homolog 3 gene are associated with body weight and average daily gain in Bos taurus. Genes Genom., 33: 665-671.Search in Google Scholar

Lan X.Y., Zhao H.Y., Li Z.J., Zhou R., Jiang X.Y., Han C.S., Pan C.Y., Lei C.Z., Chen H. (2013). Exploring novel genetic variant of PITX1 gene and its effect on milk performance in dairy goats. J. Integr. Agric., 12: 118-126.Search in Google Scholar

Lazea C., Grigorescu - Sido P., Popp R., Legendre M., Amselem S., Al - Khzouz C., Bucerzan S., Creţ V., Crişan M., Brad C. (2015). The c.301_302del AG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency. J. Pediatr. Endocr. Met., 28: 993-998.Search in Google Scholar

Li S., Crenshaw E.B., Rawson E.J., Simmons D.M., Swanson L.W., Rosenfeld M.G. (1990). Dwarf locus mutants lacking three pituitary cell types result from mutations in the POUdomain gene pit-1. Nature, 347: 528-533.Search in Google Scholar

Liu Q.Y., Geng C.X., Chu M.X., Chen H.Q., Jin M., Zhang Y.J., Di R., Feng T., Li N. (2015). Polymorphism of Prophet of Pit-1 gene and its relationship with litter size of Small Tail Han sheep. J. Genet., 94: e27-e30.Search in Google Scholar

Maitra A., Sharma R., Ahlawat S., Tantia M.S. (2014). Novel genetic polymorphisms in caprine GPR54 gene associated with reproductive functions. Indian J. Anim. Sci., 84: 1196-1201.Search in Google Scholar

Mura M.C., Daga C., Paludo M., Luridiana S., Pazzola M., Bodano S., Dettori M.L., Vacca G.M., Carcangiu V. (2012). Analysis of polymorphism within POU1F1 gene in relation to milk production traits in dairy Sarda sheep breed. Mol. Biol. Rep., 39: 6975-6979.Search in Google Scholar

Nei M., Roychoudhury A.K. (1974). Sampling variances of heterozygosity and genetic distance. Genetics, 76: 379-390.Search in Google Scholar

Ozmen O., Kul S., Unal E.O. (2014). Polymorphism of sheep POU1F1 gene exon 6 and 3'UTRregion and their association with milk production traits. Iranian J. Vet. Res., 15: 331-335.Search in Google Scholar

Palagano E., Blair H.C., Pangrazio A., Tourkova I., Strina D., Angius A., Cuccuru G., Oppo M., Uva P., Van H.W., Boudin E., Superti-Furga A., Faletra F., Nocerino A., Ferrari M.C., Grappiolo G., Monari M., Montanelli A., Vezzoni P., Villa A., Sobacchi C. (2015). Buried in the middle but guilty: intronic mutations in the TCIRG1 gene cause human autosomal recessive osteopetrosis. J. Bone Miner. Res., 30: 1814-1821.Search in Google Scholar

Pan C.Y., Wu C.Y., Jia W.C., Xu Y., Hu S.R., Lei C.Z., Lan X.Y., Chen H. (2013). Acritical functional missense mutation (H173R) in the bovine PROP1 gene significantly affects growth traits in cattle. Gene, 531: 398-402.Search in Google Scholar

Pfäffle R., Klammt J. (2011). Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. Best Pract. Res. Cl. En., 25: 43-60.Search in Google Scholar

Poulin G., Lebel M., Chamberland M., Paradis F.W., Drouin J. (2000). Specific protein- protein interaction between basic helix-loop-helix transcription factors and homeoproteins of the Pitx family. Mol. Cell. Biol., 20: 4826-4837.Search in Google Scholar

Ribeca C., Bonfatti V., Cecchinato A., Albera A., Gallo L., Carnier P. (2014). Effect of polymorphisms in candidate genes on carcass and meat quality traits in double muscled Piemontese cattle. Meat Sci., 96: 1376-1383.Search in Google Scholar

Sadeghi M., Jalil-Sarghale A., Moradi - Shahrbabak M. (2014). Associations of POU1F1 gene polymorphisms and protein structure changes with growth traits and blood metabolites in two Iranian sheep breeds. J. Genet., 93: 831-835.Search in Google Scholar

Savage J.J., Yaden B.C., Kiratipranon P., Rhodes S.J. (2003). Transcriptional control during mammalian anterior pituitary development. Gene, 319: 1-19.Search in Google Scholar

Seong J., Oh J.D., Cheong I.C., Lee K.W., Lee H.K., Suh D.S., Jeon G.J., Park K.D., Kong H.S. (2011). Association between polymorphisms of Myf5 and POU1F1 genes with growth and carcass traits in Hanwoo (Korean cattle). Genes Genom., 33: 425-430.Search in Google Scholar

Sun Y.J., Lan X.Y., Lei C.Z., Zhang C.L., Chen H. (2015). Haplotype combination of the bovine CFL2 gene sequence variants and association with growth traits in Qinchuan cattle. Gene, 563: 136-141.Search in Google Scholar

Wang A.L., Zhang Y., Li M.J., Lan X.Y., Wang J.Q., Chen H. (2013). SNPidentification in FBXO32 gene and their associations with growth traits in cattle. Gene, 515: 181-186.Search in Google Scholar

Wang J., Li G.W., Elzo M.A., Yan L.J., Chen S.Y., Jia X.B., Lai S.J. (2015). Anovel single nucleotide polymorphism of the POU1F1 gene associated with meat quality traits in rabbits. Ann. Anim. Sci., 15: 611-620.Search in Google Scholar

Xu T.S., Liu J.B., Yao D.W., Cai H.F., Chen H., Zhou H.L., Lan X.Y. (2010). The prophet of PIT1 gene variation and its effect on growth traits in Chinese indigenous goat. J. Anim. Vet. Adv., 9: 2940-2946.Search in Google Scholar

Yan L.J., Fang X.T., Liu Y., Zhang C.L., Liu X.X., Zhao J., Li J.J., Chen H. (2013). Effects of single and combined genotypes of MC4Rand POU1F1 genes on two production traits in Langshan chicken. Mol. Biol. Rep., 40: 4645-4650.Search in Google Scholar

Zeng X.C., Chen H.Y., Jia B., Zhao Z.S., Hui W.Q., Wang Z.B., Du Y.C. (2011). Identification of SNPs within the sheep PROP1 gene and their effects on wool traits. Mol. Biol. Rep., 38: 2723-2728.Search in Google Scholar

Zhang C.L., Liu B., Chen H., Lan X.Y., Lei C.Z., Zhang Z.Q., Zhang R.F. (2009). Associations ofa Hinf I PCR-RFLPof POU1F1 gene with growth traits in Qinchuan cattle. Anim. Biotechnol., 20: 71-74.Search in Google Scholar

Zhang X.Y., Wu X.F., Jia W.C., Pan C.Y., Li X.C., Lei C.Z., Chen H., Lan X.Y. (2015). Novel nucleotide variations, haplotypes structure and associations with growth related traits of goat ATmotif-binding factor (ATBF1) gene. Asian Austral. J. Anim. Sci., 28: 1394-1406.Search in Google Scholar

Zhao H.Y., Wu X.F., Cai H.F., Pan C.Y., Lei C.Z., Chen H., Lan X.Y. (2013). Genetic variants and effects on milk traits of the caprine paired-like homeodomain transcription factor 2 (PITX2) gene in dairy goats. Gene, 532: 203-210.Search in Google Scholar

Zhou F.Y., Yang Q., Lei C.Z., Chen H., Lan X.Y. (2016). Relationship between genetic variants of POU1F1, PROP1, IGFBP3 genes and milk performance in Guanzhong dairy goats. Small Ruminant Res., 140: 40-45. Search in Google Scholar

Recommended articles from Trend MD

Plan your remote conference with Sciendo