CFTR基因与无精子症关系研究进展
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摘要
<正>囊性纤维跨膜传导调节因子(cystic fibers transm embrane regulators,CFTR)是完整的跨膜蛋白,也是腺苷-3',5'-环化一磷酸(cyclic adenosine monophosphate,cAMP)激活的氯离子和碳酸氢根离子传导通道,介导上皮细胞中的跨上皮氯离子分泌。已知CFTR突变可以导致囊性纤维化(cystic fibrosis,CF)。CF是一种北美人群常见的常染色体隐性遗传病,CF患者出生时各组织中上皮结构
引文
[1]乔迪,吴宏飞.先天性输精管缺如[J].中华男科学杂志,2004,10(10):775-780.
[2]Riordan JR,Rommens JM,Kerem B,et al.Identification of the cystic fibrosis gene:cloning and characterization of complementary DNA[J].Science,1989,245(4922):1066-1073.
[3]Aleksandrov AA,Kota P,Aleksandrov LA,et al.Regulatory insertion removal restores maturation,stability and function of DeltaF508 CFTR[J].J Mol Biol,2010,401(2):194-210.
[4]Ostedgaard LS,Baldursson O,Welsh MJ.Regulation of the cystic fibrosis transmembrane conductance regulator Clchannel by its R domain[J].J Biol Chem,2001,276(11):7689-7692.
[5]Meng X,Clews J,Kargas V,et al.The cystic fibrosis transmembrane conductance regulator(CFTR)and its stability[J].Cell Mol Life Sci,2017,74(1):23-38.
[6]Wang Y,Wrennall JA,Cai Z,et al.Understanding how cystic fibrosis mutations disrupt CFTR function:from single molecules to animal models[J].Int J Biochem Cell Biol,2014,52:47-57.
[7]Wang YY,Lin YH,Wu YN,et al.Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice[J].PLoS Genet,2017,13(4):e1006715.
[8]Liu F,Zhang Z,Csanády L,et al.Molecular structure of the human CFTR ion channel[J].Cell,2017,169(1):85-95.e8.
[9]Saint-Criq V,Gray MA.Role of CFTR in epithelial physiology[J].Cell Mol Life Sci,2017,74(1):93-115.
[10]Jacquot J,Delion M,Gangloff S,et al.Bone disease in cystic fibrosis:new pathogenic insights opening novel therapies[J].Osteoporos Int,2016,27(4):1401-1412.
[11]World Health Organization Department of Reproductive Health and Research.WHO laboratory manual for the examination and processing of human semen,fifth edition[EB/OL].2010[2018-07-27].http://www.who.int/reproductivehealth/publications/infertility/9789241547789/en/.
[12]Xie C,Chen X,Liu Y,et al.Multicenter study of genetic abnormalities associated with severe oligospermia and nonobstructive azoospermia[J].J Int Med Res,2018,46(1):107-114.
[13]Esteves SC.Clinical management of infertile men with nonobstructive azoospermia[J].Asian J Androl,2015,17(3):459-470.
[14]Gudeman SR,Townsend B,Fischer K,et al.Etiology of azoospermia in a military population[J].J Urol,2015,193(4):1318-1321.
[15]Mittal PK,Little B,Harri PA,et al.Role of imaging in the evaluation of male infertility[J].Radiographics,2017,37(3):837-854.
[16]Wosnitzer M,Goldstein M,HardyMP,et al.Review of azoospermia[J].Spermatogenesis,2014,4:e28218.
[17]Asadi F,Mirfakhraie R,Mirzajani F,et al.A Survey of the common mutations and IVS8-Tn polymorphism of cystic fibrosis transmembrane conductance regulator gene in infertile men with nonobstructive azoospermia and CBAVD in iranian population[J].Iran Biomed J,2019,23(2):92-98.
[18]Fok KL,Chen H,Ruan YC,et al.Novel regulators of spermatogenesis[J].Semin Cell Dev Biol,2014,29:31-42.
[19]Borth H,Weber N,Meyer D,et al.The IP3 R binding protein released with inositol 1,4,5-Trisphosphate is expressed in rodent reproductive tissue and spermatozoa[J].J Cell Physiol,2016,231(5):1114-1129.
[20]Jiang L,Jin J,Wang S,et al.CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia:From case-control study[J].Gene,2017,626:282-289.
[21]Jesus TT,Bernardino RL,Martins AD,et al.Aquaporin-4as a molecular partner of cystic fibrosis transmembrane conductance regulator in rat Sertoli cells[J].Biochem Biophys Res Commun,2014,446(4):1017-1021.
[22]Jiang LY,Shan JJ,Tong XM,et al.Cystic fibrosis transmembrane conductance regulator is correlated closely with sperm progressive motility and normal morphology in healthy and fertile men with normal sperm parameters[J].Andrologia,2014,46(8):824-830.
[23]Liao H,Chen Y,Li Y,et al.CFTR is required for the migration of primordial germ cells during zebrafish early embryogenesis[J].Reproduction,2018,156(3):261-268.
[24]Alves MG,SáR,Jesus TT,et al.CFTR regulation of aquaporin-mediated water transport:a target in male fertility[J].Curr Drug Targets,2015,16(9):993-1006.
[25]Xu WM,Chen J,Chen H,et al.Defective CFTR-dependent CREB activation results in impaired spermatogenesis and azoospermia[J].PLoS One,2011,6(5):e19120.
[26]Chen J,Fok KL,Chen H,et al.Cryptorchidism-induced CFTR down-regulation results in disruption of testicular tight junctions through up-regulation of NF-κB/COX-2/PGE2[J].Hum Reprod,2012,27(9):2585-2597.
[27]Gudeman SR,Townsend B,Fischer K,et al.Etiology of azoospermia in a military population[J].J Urol,2015,193(4):1318-1321.
[28]Sharma H,Mavuduru RS,Singh SK,et al.Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers[J].Mol Hum Reprod,2014,20(9):827-835.
[29]Yang X,Sun Q,Yuan P,et al.Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens[J].Fertil Steril,2015,104(5):1268-1275.e1-2.
[30]Xu X,Zheng J,Liao Q,et al.Meta-analyses of 4 CFTRvariants associated with the risk of the congenital bilateral absence of the vas deferens[J].J Clin Bioinforma,2014,4:11.
[31]Lu S,Yang X,Cui Y,et al.Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of vas deferens and other acquired obstructive azoospermia[J].Urology,2013,82(4):824-828.
[32]赵文忠,罗招凡,钟安,等.囊性纤维化跨膜转导调节因子基因多态性与男性先天性双侧输精管缺如的相关性研究[J].中国卫生检验杂志,2017,27(19):2742-2745.
[33]杨晓健,袁萍,吴晓,等.先天性单侧输精管缺如合并无精子症CFTR基因突变检测[J].中华男科学杂志,2015,21(3):229-233.
[34]Sharma H,Mavuduru RS,Singh SK,et al.Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure[J].Gene,2014,548(1):43-47.
[35]LaRusch J,Jung J,General IJ,et al.Mechanisms of CFTRfunctional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis[J].PLoS Genet,2014,10(7):e1004376.
[36]Wang YY,Lin YH,Wu YN,et al.Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice[J].PLoS Genet,2017,13(4):e1006715.
[2]Riordan JR,Rommens JM,Kerem B,et al.Identification of the cystic fibrosis gene:cloning and characterization of complementary DNA[J].Science,1989,245(4922):1066-1073.
[3]Aleksandrov AA,Kota P,Aleksandrov LA,et al.Regulatory insertion removal restores maturation,stability and function of DeltaF508 CFTR[J].J Mol Biol,2010,401(2):194-210.
[4]Ostedgaard LS,Baldursson O,Welsh MJ.Regulation of the cystic fibrosis transmembrane conductance regulator Clchannel by its R domain[J].J Biol Chem,2001,276(11):7689-7692.
[5]Meng X,Clews J,Kargas V,et al.The cystic fibrosis transmembrane conductance regulator(CFTR)and its stability[J].Cell Mol Life Sci,2017,74(1):23-38.
[6]Wang Y,Wrennall JA,Cai Z,et al.Understanding how cystic fibrosis mutations disrupt CFTR function:from single molecules to animal models[J].Int J Biochem Cell Biol,2014,52:47-57.
[7]Wang YY,Lin YH,Wu YN,et al.Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice[J].PLoS Genet,2017,13(4):e1006715.
[8]Liu F,Zhang Z,Csanády L,et al.Molecular structure of the human CFTR ion channel[J].Cell,2017,169(1):85-95.e8.
[9]Saint-Criq V,Gray MA.Role of CFTR in epithelial physiology[J].Cell Mol Life Sci,2017,74(1):93-115.
[10]Jacquot J,Delion M,Gangloff S,et al.Bone disease in cystic fibrosis:new pathogenic insights opening novel therapies[J].Osteoporos Int,2016,27(4):1401-1412.
[11]World Health Organization Department of Reproductive Health and Research.WHO laboratory manual for the examination and processing of human semen,fifth edition[EB/OL].2010[2018-07-27].http://www.who.int/reproductivehealth/publications/infertility/9789241547789/en/.
[12]Xie C,Chen X,Liu Y,et al.Multicenter study of genetic abnormalities associated with severe oligospermia and nonobstructive azoospermia[J].J Int Med Res,2018,46(1):107-114.
[13]Esteves SC.Clinical management of infertile men with nonobstructive azoospermia[J].Asian J Androl,2015,17(3):459-470.
[14]Gudeman SR,Townsend B,Fischer K,et al.Etiology of azoospermia in a military population[J].J Urol,2015,193(4):1318-1321.
[15]Mittal PK,Little B,Harri PA,et al.Role of imaging in the evaluation of male infertility[J].Radiographics,2017,37(3):837-854.
[16]Wosnitzer M,Goldstein M,HardyMP,et al.Review of azoospermia[J].Spermatogenesis,2014,4:e28218.
[17]Asadi F,Mirfakhraie R,Mirzajani F,et al.A Survey of the common mutations and IVS8-Tn polymorphism of cystic fibrosis transmembrane conductance regulator gene in infertile men with nonobstructive azoospermia and CBAVD in iranian population[J].Iran Biomed J,2019,23(2):92-98.
[18]Fok KL,Chen H,Ruan YC,et al.Novel regulators of spermatogenesis[J].Semin Cell Dev Biol,2014,29:31-42.
[19]Borth H,Weber N,Meyer D,et al.The IP3 R binding protein released with inositol 1,4,5-Trisphosphate is expressed in rodent reproductive tissue and spermatozoa[J].J Cell Physiol,2016,231(5):1114-1129.
[20]Jiang L,Jin J,Wang S,et al.CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia:From case-control study[J].Gene,2017,626:282-289.
[21]Jesus TT,Bernardino RL,Martins AD,et al.Aquaporin-4as a molecular partner of cystic fibrosis transmembrane conductance regulator in rat Sertoli cells[J].Biochem Biophys Res Commun,2014,446(4):1017-1021.
[22]Jiang LY,Shan JJ,Tong XM,et al.Cystic fibrosis transmembrane conductance regulator is correlated closely with sperm progressive motility and normal morphology in healthy and fertile men with normal sperm parameters[J].Andrologia,2014,46(8):824-830.
[23]Liao H,Chen Y,Li Y,et al.CFTR is required for the migration of primordial germ cells during zebrafish early embryogenesis[J].Reproduction,2018,156(3):261-268.
[24]Alves MG,SáR,Jesus TT,et al.CFTR regulation of aquaporin-mediated water transport:a target in male fertility[J].Curr Drug Targets,2015,16(9):993-1006.
[25]Xu WM,Chen J,Chen H,et al.Defective CFTR-dependent CREB activation results in impaired spermatogenesis and azoospermia[J].PLoS One,2011,6(5):e19120.
[26]Chen J,Fok KL,Chen H,et al.Cryptorchidism-induced CFTR down-regulation results in disruption of testicular tight junctions through up-regulation of NF-κB/COX-2/PGE2[J].Hum Reprod,2012,27(9):2585-2597.
[27]Gudeman SR,Townsend B,Fischer K,et al.Etiology of azoospermia in a military population[J].J Urol,2015,193(4):1318-1321.
[28]Sharma H,Mavuduru RS,Singh SK,et al.Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers[J].Mol Hum Reprod,2014,20(9):827-835.
[29]Yang X,Sun Q,Yuan P,et al.Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens[J].Fertil Steril,2015,104(5):1268-1275.e1-2.
[30]Xu X,Zheng J,Liao Q,et al.Meta-analyses of 4 CFTRvariants associated with the risk of the congenital bilateral absence of the vas deferens[J].J Clin Bioinforma,2014,4:11.
[31]Lu S,Yang X,Cui Y,et al.Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of vas deferens and other acquired obstructive azoospermia[J].Urology,2013,82(4):824-828.
[32]赵文忠,罗招凡,钟安,等.囊性纤维化跨膜转导调节因子基因多态性与男性先天性双侧输精管缺如的相关性研究[J].中国卫生检验杂志,2017,27(19):2742-2745.
[33]杨晓健,袁萍,吴晓,等.先天性单侧输精管缺如合并无精子症CFTR基因突变检测[J].中华男科学杂志,2015,21(3):229-233.
[34]Sharma H,Mavuduru RS,Singh SK,et al.Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure[J].Gene,2014,548(1):43-47.
[35]LaRusch J,Jung J,General IJ,et al.Mechanisms of CFTRfunctional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis[J].PLoS Genet,2014,10(7):e1004376.
[36]Wang YY,Lin YH,Wu YN,et al.Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice[J].PLoS Genet,2017,13(4):e1006715.