Genetic variability of KiSS-1 and GPR-54 genes and its infulence on animal reproduction. A review
URSZULA KACZOR
1 Katedra Biotechnologii Zwierząt, Uniwersytet Rolniczy im. Hugona Kołłątaja w Krakowie, ul. Rędzina 1b, 30-278 KrakówKAMIL BRUTKOWSKI
Katedra Biotechnologii Zwierząt, Uniwersytet Rolniczy im. Hugona Kołłątaja w Krakowie, ul. Rędzina 1b, 30-278 KrakówMIROSŁAW KUCHARSKI
Katedra Biotechnologii Zwierząt, Uniwersytet Rolniczy im. Hugona Kołłątaja w Krakowie, ul. Rędzina 1b, 30-278 KrakówANDRZEJ KACZOR
Dział Technologii Ekologii i Ekonomiki Produkcji Zwierzęcej, Instytut Zootechniki – Państwowy Instytut Badawczy, ul. Krakowska 1, 30-083 Balice k. KrakowaAbstract
Kisspeptyn (KiSS) and its constitutive receptor GPR-54 play a key role in the regulation of the hypothalamic-pituitary-gonadal (HPG), affecting, for example, activation gonadotropin axis in adolescent humans. Mutations in the gene KiSS-1 and GPR-54 may play an important role in the pathogenesis of CPP (early puberty) and the IHH (idiopathic hypogonadotropic hypogonadism). The role of variation in gene sequences KiSS1/GPR54 in other mammals is not well known, and the relationships of polymorphisms with parameters of reproductive performance of livestock are divergent and require further studies.
Keywords:
KiSS-1, GPR-54, reproductio, mammalsReferences
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An X.P., Han P., Zhao H.B., Yan Y., Ma T., Fang F., Meng F.X., Song Y.X., Wang J.G., Cao B.Y., 2013a. Molecular cloning and charaterization of KISS1 promoter and effect of KISS gene mutations on litter size In the goat. Genet. Mol. Res. 12, 4, 4308–4316.
An X.P., Hou J.X., Lei Y.N., Gao T.Y., Cao B.Y., 2015. Polymorphism and DNA methylation in the promoter modulate KISS gene expression and are associated with litter size in goats. Anim Reprod Sci. 155, 36–41, doi: 10.1016/j.anireprosci.2015.01.013.
An X.P., Ma T., Hou J.X., Fang F., Han P., Yan Y., Zhao H.B., Song Y.X., Wang J.G., Cao P.Y., 2013b. Association analysis on DNA sequence of KiSS-1 gene and litter size In goats. BMC Genetics 14, 63–68.
Biran J., Ben-Dor S., Levavi-Sivan B., 2008. Molecular identification and functional characterization of the kisspeptin/kisspeptin receptor system in lower vertebrates. Biol. Reprod. 79, 776–786.
Cao G.L., Chu M.X., Fang L., Di R., Feng T., Li N., 2010. Analysis on DNA sequence of KiSS-1 gene and its association with litter size in goats. Mol. Biol. Rep. 37, 3921–3929.
Cao G.L., Chu M.X., Fang L., Feng T., Di R., Li N., 2011. Analysis on DNA sequence of GPR54 gene and its association with litter size in goats. Mol. Biol. Rep. 38, 383–3848.
Chan Y.M., Broder-Fingert S., Paraschos S., Lapatto R., Au M., Hughes V., Bianco S.D., Min L., Plummer L., Cerrato F., De Guillebon A., Wu I.H., 2011. GnRH deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. J. Clin. Endocrinol. Metab. 96, 1771–1781.
Chu M., Xiao C., Feng T., Fu Y., Cao G., Fang L., Di R., Tang Q., Huang D., Ma Y., Li K., Li N., 2012. Polymorphisms of KiSS-1 and GPR54 genes and their relationships with litter size in sheep. Mol. Biol. Rep. 39, 3291–3297.
d’Anglemont de Tassigny X., Fagg L.A., Dixon J.P., Day K., Leitch H.G. i in., 2007. Hypogonadotropic hypogonadism in mice lacking a functional Kiss1 gene. Proc. Natl. Acad. Sci. USA 104, 10714–10719.
De Roux N., Genin E., Carel J.C., Matsuda F., Chaussain J.L., Milgrom E., 2003. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54.
Proc. Natl. Acad. Sci. USA 100, 10972–10976.
Funes S., Hedrick J.A., Vassileva G., Markowitz L., Abbondanzo S., Golovko A., Yang S., Monsma F.J., Gustafson E.L., 2003. The KiSS-1 receptor GPR54 is essential for the development of the murine reproductive system. BBRC 312, 1357–1363.
Hou J.X., An X.P., Wang J.G., Song Y.X., Cui Y.H., Wang Y.F., Chen Q.J., Cao B.Y., 2011. New genetic polymorphisms of KiSS-1 gene and their association with litter size in goats. Small Rum. Res. 96(2), 106–110.
Kirby H.R., Maguire J.J, Colledge W.H., Davenport A.P., 2010. International Union of Basic and Clinical Pharmacology. LXXVII. Kisspeptin receptor nomenclature, distribution and function. Pharmacol. Rev., 62, 565–578.
Kotani M., Detheux M., Vandenbogaerde A., Communi D., Vanderwinden J.M., Le Poul E., Brezillon S., Tyldesley R., Suarez-Huerta N., Vandeput F., 2001. The metastasis suppressor gene KiSS-1 encodes kisspeptins, the natural ligands of the orphan G protein-coupled receptor GPR54. J. Biol. Chem. 276, 34631–34636.
Lapatto R., Pallais J.C., Zhang D., Chan Y.M., Mahan A., Cerrato F., Le W.W., Hoffman G.E., Seminara S.B., 2007. Kiss1/mice exhibit more variable hypogonadism than gpr54/mice. Endocrinology 148, 4927–4936.
Lee D.K., Nguyen T., O’Neill G.P., Chang R., Liu Y., Howard A.D., Coulombe N., Tan C.P., Tang-Nguyen A.T., George S.R., 1999. Discovery of a receptor related to the galanin receptors. FEBS Lett. 446, 103–107.
Lee J.H., Welch D.R., 1997. Identification of highly expressed genes in metastasis-suppressed chromosome 6/human malignant melanoma hybrid cells using subtractive hybridization and differential display. Int. J. Cancer 71, 1035–1044.
Li S., Ren J., Yang G., Guo Y., Huang L., 2008. Characterization of the porcine Kisspeptins receptor gene and evaluation as candidate for timing of puberty in sows. J Anim. Breed. Genet. 125(4), 219–27.
Luan X., Zhou Y., Wang W., Yu H., Li P., Gan X., Wei D., Xiao J., 2007. Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls. Eur. J. Endocrinol. 157, 113–118.
Luridiana S., Mura M.C., Daga C. , Cosso G. , Bodano S., Farcia F., Zidda F., Carcangiu V., 2014. Influences of melatonin treatment, melatonin receptor 1A (MTNR1A) and kisspeptin (KiSS-1) gene polymorphisms on first conception in Sarda ewe lambs. Reprod. Fert. Develop., http://dx.doi.org/10.1071/RD14120.
Maitra A., Sarma R., Ahlawat S., Tantia M.S., 2014a. Novel genetic polymorphism In caprine GPR54 gene associated with productive functions. Indian J. Anim. Sci. 84 (11), 1196–1201.
Maitra A., Sarma R., Ahlawat S., Tantia M., S., Roy M., Prakash V., 2014b. Association analysis of polymorphisms in caprine KiSS 1 gene with reproductive traits. Anim. Reprod. Sci. 151 (1–2), 10, 71–77.
Muir A.I., Chamberlain L., Elshourbagy N.A., Michalovich D., Moore D.J., Calamari A., Szekeres P.G., Sarau H.M., Chambers J.K., Murdock P., 2001. AXOR12, a novel human G proteincoupled receptor, activated by the peptide KiSS-1. J. Biol. Chem. 276, 28969–28975.
Nimri R., Lebenthal Y., Lazar L., Chevrier L., Phillip M., Bar M., Hernandez-Mora E., de Roux N., Gat-Yablonski G., 2011. A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family. J. Clin. Endocrinol. Metab. 96, 536–545.
Ohtaki T., Shintani Y., Honda S., Matsumoto H., Hori A., Kanehashi K., Terao Y., Kumano S., Takatsu Y., Masuda Y., 2001. Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G protein-coupled receptor. Nature 411, 613–617.
Othman E., Darwish H., Abou-Eisha A., El-Din A., Abdel-Samad M., 2015. DNA characterization and polymorphism of KISS1 gene in Egyptian small ruminant breeds. Af. J. Biotech. 14 (30), 2335–2340.
Popa S.M., Clifton D.K., Steiner R.A., 2008. The role of kisspeptins and GPR54 in the neuroendocrine regulation of reproduction. Annu. Rev. Physiol. 70, 213–238.
Seminara S.B., Messager S., Chatzidaki E.E., Thresher R.R., Acierno J.S. i in., 2003. The GPR54 gene as a regulator of puberty. New Engl. J. Med. 349, 1614–1627.
Semple R.K., Achermann J.C., Ellery J., Farooqi I.S., Karet F.E., Stanhope R.G., O’rahilly S., Aparicio S.A., 2005. Two novel missense mutations in g protein−coupled receptor 54 in a patient with hypogonadotropic hypogonadism. J. Clin. Endocrinol. Metab. 90 (3), 1849–1855.
Silveira L.G., Noel S.D., Silveira-Neto A.P., Abreu A.P., Brito V.N., Santos M.G., Bianco S.D., Kuohung W., Xu S., Gryngarten M., Escobar M.E., Arnhold I.J., Mendonca B.B., Kaiser U.B., Latronico A.C., 2010. Mutations of the KISS1 gene in disorders of puberty. J. Clin. Endocrinol. Metab. 95, 2276–2280.
Sztuka A., Zdrojewicz Z., 2006. Kisspeptin – hormon of puberty? Adv. Clin. Exp. Med. 15, 949–952.
Teles M.G., Trarbach E.B., Noel S.D., Guerra-Junior G. i in., 2010. A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism. Eur. J. Endocrinol. 163, 29–34.
Tenenbaum-Rakover Y., Commenges-Ducos M., Iovane A., Aumas C., Admoni O., de Roux N., 2007. Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. J. Clin. Endocrinol. Metab. 92, 1137–1144.
Tomikawa J., Homma T., Tajima S., Shibata T., Inamoto Y., Takase K., Inoue N., Ohkura S., Uenoyama Y., Maeda K., Tsukamura H., 2010. Molecular Characterization and estrogen regulation of hypothalamic KISS1 gene in the pig. Biol. Rep. 82, 313–319.
Um H.N., Han J.M., Hwang J.I., Hong S.I., Vaudry H., Seong J.Y., 2010. Molecular coevolution of kisspeptins and their receptors from fish to mammals. Ann. NY Acad. Sci. 1200, 67–74.
West A., Vojta P.J., Welch D.R., Weissman B.E., 1998. Chromosome localization and genomic structure of the KiSS-1 metastasis suppressor gene (KISS1), Genomics 54, 145–148.
Young-Jun R., Kee-Hyoung L., Jung M. K., Woo Jung L., Jung Hyun K., Ho-Seong K., 2014. KISS1 gene polymorphisms in Korean girls with Central Precocious Puberty. J. Korean Med. Sci. 29(8), 1120–1125.
An X.P., Han P., Zhao H.B., Yan Y., Ma T., Fang F., Meng F.X., Song Y.X., Wang J.G., Cao B.Y., 2013a. Molecular cloning and charaterization of KISS1 promoter and effect of KISS gene mutations on litter size In the goat. Genet. Mol. Res. 12, 4, 4308–4316.
An X.P., Hou J.X., Lei Y.N., Gao T.Y., Cao B.Y., 2015. Polymorphism and DNA methylation in the promoter modulate KISS gene expression and are associated with litter size in goats. Anim Reprod Sci. 155, 36–41, doi: 10.1016/j.anireprosci.2015.01.013.
An X.P., Ma T., Hou J.X., Fang F., Han P., Yan Y., Zhao H.B., Song Y.X., Wang J.G., Cao P.Y., 2013b. Association analysis on DNA sequence of KiSS-1 gene and litter size In goats. BMC Genetics 14, 63–68.
Biran J., Ben-Dor S., Levavi-Sivan B., 2008. Molecular identification and functional characterization of the kisspeptin/kisspeptin receptor system in lower vertebrates. Biol. Reprod. 79, 776–786.
Cao G.L., Chu M.X., Fang L., Di R., Feng T., Li N., 2010. Analysis on DNA sequence of KiSS-1 gene and its association with litter size in goats. Mol. Biol. Rep. 37, 3921–3929.
Cao G.L., Chu M.X., Fang L., Feng T., Di R., Li N., 2011. Analysis on DNA sequence of GPR54 gene and its association with litter size in goats. Mol. Biol. Rep. 38, 383–3848.
Chan Y.M., Broder-Fingert S., Paraschos S., Lapatto R., Au M., Hughes V., Bianco S.D., Min L., Plummer L., Cerrato F., De Guillebon A., Wu I.H., 2011. GnRH deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. J. Clin. Endocrinol. Metab. 96, 1771–1781.
Chu M., Xiao C., Feng T., Fu Y., Cao G., Fang L., Di R., Tang Q., Huang D., Ma Y., Li K., Li N., 2012. Polymorphisms of KiSS-1 and GPR54 genes and their relationships with litter size in sheep. Mol. Biol. Rep. 39, 3291–3297.
d’Anglemont de Tassigny X., Fagg L.A., Dixon J.P., Day K., Leitch H.G. i in., 2007. Hypogonadotropic hypogonadism in mice lacking a functional Kiss1 gene. Proc. Natl. Acad. Sci. USA 104, 10714–10719.
De Roux N., Genin E., Carel J.C., Matsuda F., Chaussain J.L., Milgrom E., 2003. Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54.
Proc. Natl. Acad. Sci. USA 100, 10972–10976.
Funes S., Hedrick J.A., Vassileva G., Markowitz L., Abbondanzo S., Golovko A., Yang S., Monsma F.J., Gustafson E.L., 2003. The KiSS-1 receptor GPR54 is essential for the development of the murine reproductive system. BBRC 312, 1357–1363.
Hou J.X., An X.P., Wang J.G., Song Y.X., Cui Y.H., Wang Y.F., Chen Q.J., Cao B.Y., 2011. New genetic polymorphisms of KiSS-1 gene and their association with litter size in goats. Small Rum. Res. 96(2), 106–110.
Kirby H.R., Maguire J.J, Colledge W.H., Davenport A.P., 2010. International Union of Basic and Clinical Pharmacology. LXXVII. Kisspeptin receptor nomenclature, distribution and function. Pharmacol. Rev., 62, 565–578.
Kotani M., Detheux M., Vandenbogaerde A., Communi D., Vanderwinden J.M., Le Poul E., Brezillon S., Tyldesley R., Suarez-Huerta N., Vandeput F., 2001. The metastasis suppressor gene KiSS-1 encodes kisspeptins, the natural ligands of the orphan G protein-coupled receptor GPR54. J. Biol. Chem. 276, 34631–34636.
Lapatto R., Pallais J.C., Zhang D., Chan Y.M., Mahan A., Cerrato F., Le W.W., Hoffman G.E., Seminara S.B., 2007. Kiss1/mice exhibit more variable hypogonadism than gpr54/mice. Endocrinology 148, 4927–4936.
Lee D.K., Nguyen T., O’Neill G.P., Chang R., Liu Y., Howard A.D., Coulombe N., Tan C.P., Tang-Nguyen A.T., George S.R., 1999. Discovery of a receptor related to the galanin receptors. FEBS Lett. 446, 103–107.
Lee J.H., Welch D.R., 1997. Identification of highly expressed genes in metastasis-suppressed chromosome 6/human malignant melanoma hybrid cells using subtractive hybridization and differential display. Int. J. Cancer 71, 1035–1044.
Li S., Ren J., Yang G., Guo Y., Huang L., 2008. Characterization of the porcine Kisspeptins receptor gene and evaluation as candidate for timing of puberty in sows. J Anim. Breed. Genet. 125(4), 219–27.
Luan X., Zhou Y., Wang W., Yu H., Li P., Gan X., Wei D., Xiao J., 2007. Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls. Eur. J. Endocrinol. 157, 113–118.
Luridiana S., Mura M.C., Daga C. , Cosso G. , Bodano S., Farcia F., Zidda F., Carcangiu V., 2014. Influences of melatonin treatment, melatonin receptor 1A (MTNR1A) and kisspeptin (KiSS-1) gene polymorphisms on first conception in Sarda ewe lambs. Reprod. Fert. Develop., http://dx.doi.org/10.1071/RD14120.
Maitra A., Sarma R., Ahlawat S., Tantia M.S., 2014a. Novel genetic polymorphism In caprine GPR54 gene associated with productive functions. Indian J. Anim. Sci. 84 (11), 1196–1201.
Maitra A., Sarma R., Ahlawat S., Tantia M., S., Roy M., Prakash V., 2014b. Association analysis of polymorphisms in caprine KiSS 1 gene with reproductive traits. Anim. Reprod. Sci. 151 (1–2), 10, 71–77.
Muir A.I., Chamberlain L., Elshourbagy N.A., Michalovich D., Moore D.J., Calamari A., Szekeres P.G., Sarau H.M., Chambers J.K., Murdock P., 2001. AXOR12, a novel human G proteincoupled receptor, activated by the peptide KiSS-1. J. Biol. Chem. 276, 28969–28975.
Nimri R., Lebenthal Y., Lazar L., Chevrier L., Phillip M., Bar M., Hernandez-Mora E., de Roux N., Gat-Yablonski G., 2011. A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family. J. Clin. Endocrinol. Metab. 96, 536–545.
Ohtaki T., Shintani Y., Honda S., Matsumoto H., Hori A., Kanehashi K., Terao Y., Kumano S., Takatsu Y., Masuda Y., 2001. Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G protein-coupled receptor. Nature 411, 613–617.
Othman E., Darwish H., Abou-Eisha A., El-Din A., Abdel-Samad M., 2015. DNA characterization and polymorphism of KISS1 gene in Egyptian small ruminant breeds. Af. J. Biotech. 14 (30), 2335–2340.
Popa S.M., Clifton D.K., Steiner R.A., 2008. The role of kisspeptins and GPR54 in the neuroendocrine regulation of reproduction. Annu. Rev. Physiol. 70, 213–238.
Seminara S.B., Messager S., Chatzidaki E.E., Thresher R.R., Acierno J.S. i in., 2003. The GPR54 gene as a regulator of puberty. New Engl. J. Med. 349, 1614–1627.
Semple R.K., Achermann J.C., Ellery J., Farooqi I.S., Karet F.E., Stanhope R.G., O’rahilly S., Aparicio S.A., 2005. Two novel missense mutations in g protein−coupled receptor 54 in a patient with hypogonadotropic hypogonadism. J. Clin. Endocrinol. Metab. 90 (3), 1849–1855.
Silveira L.G., Noel S.D., Silveira-Neto A.P., Abreu A.P., Brito V.N., Santos M.G., Bianco S.D., Kuohung W., Xu S., Gryngarten M., Escobar M.E., Arnhold I.J., Mendonca B.B., Kaiser U.B., Latronico A.C., 2010. Mutations of the KISS1 gene in disorders of puberty. J. Clin. Endocrinol. Metab. 95, 2276–2280.
Sztuka A., Zdrojewicz Z., 2006. Kisspeptin – hormon of puberty? Adv. Clin. Exp. Med. 15, 949–952.
Teles M.G., Trarbach E.B., Noel S.D., Guerra-Junior G. i in., 2010. A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism. Eur. J. Endocrinol. 163, 29–34.
Tenenbaum-Rakover Y., Commenges-Ducos M., Iovane A., Aumas C., Admoni O., de Roux N., 2007. Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. J. Clin. Endocrinol. Metab. 92, 1137–1144.
Tomikawa J., Homma T., Tajima S., Shibata T., Inamoto Y., Takase K., Inoue N., Ohkura S., Uenoyama Y., Maeda K., Tsukamura H., 2010. Molecular Characterization and estrogen regulation of hypothalamic KISS1 gene in the pig. Biol. Rep. 82, 313–319.
Um H.N., Han J.M., Hwang J.I., Hong S.I., Vaudry H., Seong J.Y., 2010. Molecular coevolution of kisspeptins and their receptors from fish to mammals. Ann. NY Acad. Sci. 1200, 67–74.
West A., Vojta P.J., Welch D.R., Weissman B.E., 1998. Chromosome localization and genomic structure of the KiSS-1 metastasis suppressor gene (KISS1), Genomics 54, 145–148.
Young-Jun R., Kee-Hyoung L., Jung M. K., Woo Jung L., Jung Hyun K., Ho-Seong K., 2014. KISS1 gene polymorphisms in Korean girls with Central Precocious Puberty. J. Korean Med. Sci. 29(8), 1120–1125.
URSZULA KACZOR
1 Katedra Biotechnologii Zwierząt, Uniwersytet Rolniczy im. Hugona Kołłątaja w Krakowie, ul. Rędzina 1b, 30-278 Kraków
1 Katedra Biotechnologii Zwierząt, Uniwersytet Rolniczy im. Hugona Kołłątaja w Krakowie, ul. Rędzina 1b, 30-278 Kraków
KAMIL BRUTKOWSKI
Katedra Biotechnologii Zwierząt, Uniwersytet Rolniczy im. Hugona Kołłątaja w Krakowie, ul. Rędzina 1b, 30-278 Kraków
Katedra Biotechnologii Zwierząt, Uniwersytet Rolniczy im. Hugona Kołłątaja w Krakowie, ul. Rędzina 1b, 30-278 Kraków
MIROSŁAW KUCHARSKI
Katedra Biotechnologii Zwierząt, Uniwersytet Rolniczy im. Hugona Kołłątaja w Krakowie, ul. Rędzina 1b, 30-278 Kraków
Katedra Biotechnologii Zwierząt, Uniwersytet Rolniczy im. Hugona Kołłątaja w Krakowie, ul. Rędzina 1b, 30-278 Kraków
ANDRZEJ KACZOR
Dział Technologii Ekologii i Ekonomiki Produkcji Zwierzęcej, Instytut Zootechniki – Państwowy Instytut Badawczy, ul. Krakowska 1, 30-083 Balice k. Krakowa
Dział Technologii Ekologii i Ekonomiki Produkcji Zwierzęcej, Instytut Zootechniki – Państwowy Instytut Badawczy, ul. Krakowska 1, 30-083 Balice k. Krakowa
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