Mutations in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients

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• 作者：Yiming Zhang (1) (2)
  Haobo Zhang (1)
  Yingying Qin (1)
  Yingchun Zhang (2)
  Xinxia Chen (1) (3)
  Weiping Li (4)
  Zi-Jiang Chen (1) (4)
  
  1. Center for Reproductive Medicine ; Provincial Hospital Affiliated to Shandong University ; National Research Center for Assisted Reproductive Technology and Reproductive Genetics ; China ; The Key Laboratory for Reproductive Endocrinology of Ministry of Education Shandong Provincial Key Laboratory of Reproductive Medicine ; 324 Jingwu Road ; Jinan ; 250021 ; China
  2. Department of Reproductive Medicine ; Jinan Central Hospital Affiliated to Shandong University ; 105 Jiefang Road ; Jinan ; 250013 ; China
  3. Shandong University ; 44 Wenhuaxi Road ; Jinan ; 250012 ; China
  4. Renji Hospital ; Shanghai Jiao Tong University School of Medicine ; Shanghai ; 200127 ; China
  
• 关键词：Idiopathic hypogonadotropic hypogonadism ; KISS1 ; Mutation ; Single ; nucleotide polymorphism
• 刊名：Journal of Assisted Reproduction and Genetics
• 出版年：2015
• 出版时间：March 2015
• 年：2015
• 卷：32
• 期：3
• 页码：375-378
• 全文大小：135 KB
• 参考文献：1. Bry-Gauillard, H, Trabado, S, Bouligand, J, Sarfati, J, Francou, B, Salenave, S (2010) Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics. Ann Endocrinol (Paris) 71: pp. 158-62 4" target="_blank" title="It opens in new window">CrossRef
  2. Brioude, F, Bouligand, J, Trabado, S, Francou, B, Salenave, S, Kamenicky, P (2010) Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype- phenotype relationships. Eur J Endocrinol 162: pp. 835-51 CrossRef
  3. Bianco, SD, Kaiser, UB (2009) The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. Nat Rev Endocrinol 5: pp. 569-76 CrossRef
  4. G眉rb眉z, F, Kotan, LD, Mengen, E, 艦谋klar, Z, Berbero臒lu, M, D枚kmeta艧, S (2012) Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. J Clin Res Pediatr Endocrinol 4: pp. 121-6 4274/Jcrpe.725" target="_blank" title="It opens in new window">CrossRef
  5. Mitchell, AL, Dwyer, A, Pitteloud, N, Quinton, R (2011) Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory. Trends Endocrinol Metab 22: pp. 249-58
  6. Shaw, ND, Seminara, SB, Welt, CK, Au, MG, Plummer, L, Hughes, VA (2011) Expanding the phenotype and genotype of female GnRH deficiency. J Clin Endocrinol Metab 96: pp. E566-76 CrossRef
  7. Young, J (2012) Approach to the male patient with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab 97: pp. 707-18 4" target="_blank" title="It opens in new window">CrossRef
  8. Au, MG, Crowley, WF, Buck, CL (2011) Genetic counseling for isolated GnRH deficiency. Mol Cell Endocrinol 346: pp. 102-9 41" target="_blank" title="It opens in new window">CrossRef
  9. Ohtaki, T, Shintani, Y, Honda, S, Matsumoto, H, Hori, A, Kanehashi, K (2001) Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G-protein-coupled receptor. Nature 411: pp. 613-7 CrossRef
  10. Colledge, WH (2008) GPR54 and kisspeptins. Results Probl Cell Differ 46: pp. 117-43 400_2007_050" target="_blank" title="It opens in new window">CrossRef
  11. Ansel, L, Bentsen, AH, Ancel, C, Bolborea, M, Klosen, P, Mikkelsen, JD (2011) Peripheral kisspeptin reverses short photoperiod-induced gonadal regression in Syrian hamsters by promoting GNRH release. Reproduction 142: pp. 417-25 CrossRef
  12. Millar, RP, Newton, CL (2013) Current and future applications of GnRH, kisspeptin and neurokinin B analogues. Nat Rev Endocrinol 9: pp. 451-66 CrossRef
  13. Gottsch, ML, Navarro, VM, Zhao, Z, Glidewell-Kenney, C, Weiss, J, Jameson, JL (2009) Regulation of Kiss1 and dynorphin gene expression in the murine brain by classical and nonclassical estrogen receptor pathways. J Neurosci 29: pp. 9390-5 CrossRef
  14. Grachev, P, Millar, RP, O鈥橞yrne, KT (2014) The role of neurokinin B signalling in reproductive neuroendocrinology. Neuroendocrinology 99: pp. 7-17 4" target="_blank" title="It opens in new window">CrossRef
  15. Dhillo, WS, Chaudhri, OB, Patterson, M, Thompson, EL, Murphy, KG, Badman, MK (2005) Kisspeptin-54 stimulates the hypothalamic-pituitary gonadal axis in human males. J Clin Endocrinol Metab 90: pp. 6609-15 468" target="_blank" title="It opens in new window">CrossRef
  16. Dhillo, WS, Murphy, KG, Bloom, SR (2007) The neuroendocrine physiology of kisspeptin in the human. Rev Endocr Metab Disord 8: pp. 41-6 4-007-9029-1" target="_blank" title="It opens in new window">CrossRef
  17. Dhillo, WS, Chaudhri, OB, Thompson, EL, Murphy, KG, Patterson, M, Ramachandran, R (2007) Kisspeptin-54 stimulates gonadotropin release most potently during the preovulatory phase of the menstrual cycle in women. J Clin Endocrinol Metab 92: pp. 3958-66 CrossRef
  18. Tassigny d鈥橝nglemont, X, Fagg, LA, Dixon, JP, Day, K, Leitch, HG, Hendrick, AG (2007) Hypogonadotropic hypogonadism in mice lacking a functional Kiss1 gene. Proc Natl Acad Sci U S A 104: pp. 10714-9 4114104" target="_blank" title="It opens in new window">CrossRef
  19. Lapatto, R, Pallais, JC, Zhang, D, Chan, YM, Mahan, A, Cerrato, F (2007) Kiss1鈭?鈭?mice exhibit more variable hypogonadism than Gpr54鈭?鈭?mice. Endocrinology 148: pp. 4927-36 CrossRef
  20. Chan, YM, Broder-Fingert, S, Wong, KM, Seminara, SB (2009) Kisspeptin/Gpr54- independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice. J Neuroendocrinol 21: pp. 1015-23 CrossRef
  21. Mayer, C, Boehm, U (2011) Female reproductive maturation in the absence of kisspeptin/GPR54 signaling. Nat Neurosci 14: pp. 704-10 CrossRef
  22. Topaloglu, AK, Tello, JA, Kotan, LD, Ozbek, MN, Yilmaz, MB, Erdogan, S (2012) Inactivating KISS1 mutation and hypogonadotropic hypogonadism. N Engl J Med 366: pp. 629-35 4" target="_blank" title="It opens in new window">CrossRef
  23. Smith, JT, Clarke, IJ (2007) Kisspeptin expression in the brain: catalyst for the initiation of puberty. Rev Endocr Metab Disord 8: pp. 1-9 4-007-9026-4" target="_blank" title="It opens in new window">CrossRef
  24. Gajdos, ZK, Henderson, KD, Hirschhorn, JN, Palmert, MR (2010) Genetic determinants of pubertal timing in the general population. Mol Cell Endocrinol 324: pp. 21-9 CrossRef
  25. Sanchez-Garrido, MA, Tena-Sempere, M (2013) Metabolic control of puberty: roles of leptin and kisspeptins. Horm Behav 64: pp. 187-94 4" target="_blank" title="It opens in new window">CrossRef
  26. Skorupskaite, K, George, JT, Anderson, RA (2014) The kisspeptin-GnRH pathway in human reproductive health and disease. Hum Reprod Update 20: pp. 485-500 CrossRef
  27. Silveira, LG, Noel, SD, Silveira-Neto, AP, Abreu, AP, Brito, VN, Santos, MG (2010) Mutations of the KISS1 gene in disorders of puberty. J Clin Endocrinol Metab 95: pp. 2276-80 421" target="_blank" title="It opens in new window">CrossRef
  28. Lee, JH, Miele, ME, Hicks, DJ, Phillips, KK, Trent, JM, Weissman, BE (1996) KiSS-1, a novel human malignant melanoma metastasis-suppressor gene. J Natl Cancer Inst 88: pp. 1731-7 CrossRef
  29. Ji K, Ye L, Mason MD, Jiang WG. The Kiss-1/Kiss-1R complex as a negative regulator of cell motility and cancer metastasis (Review). Int J Mol Med. 32: 747鈥?4.
  30. Roux, N, Genin, E, Carel, JC, Matsuda, F, Chaussain, JL, Milgrom, E (2013) Hypogonadotropic hypogonadism due to loss of function of the KiSS1- derived peptide receptor GPR54. Proc Natl Acad Sci U S A 32: pp. 747-54
  31. Seminara, SB, Messager, S, Chatzidaki, EE, Thresher, RR, Acierno, JS, Shagoury, JK (2003) The GPR54 gene as a regulator of puberty. N Engl J Med 349: pp. 1614-27 CrossRef
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Gynecology
  Developmental Biology
  Human Genetics
  
• 出版者：Springer Netherlands
• ISSN：1573-7330

文摘

Purpose To investigate whether mutations in the KISS1 gene are present in 170 Chinese patients with idiopathic hypogonadotropic hypogonadism (IHH). Methods Mutational screening of the KISS1 gene was performed in 170 Chinese patients with IHH (133 male cases and 37 female cases) and 187 matched controls (94 males and 93 females). Results Two known single-nucleotide polymorphisms (SNP), c. 58G > A in exon 1 and c. 242C > G in exon 2, were identified. However, no difference of genotype and allelic frequencies between cases and controls was observed. Conclusions The results suggest that mutations in the coding sequence of KISS1 are not common in patients with IHH in this Chinese population.