메뉴 건너뛰기




Volumn 32, Issue 7, 2017, Pages 1521-1531

Copy number variation of functional RBMY1 is associated with sperm motility: An azoospermia factor-linked candidate for asthenozoospermia

Author keywords

asthenozoospermia; azoospermia factor; copy conversion; copy number variation; male infertility; RBMY1; sperm motility; Y chromosome haplogroup

Indexed keywords

LIGANDIN; MESSENGER RNA; RNA BINDING MOTIF PROTEIN Y LINKED FAMILY 1; UNCLASSIFIED DRUG; NUCLEAR PROTEIN; RBMY1A1 PROTEIN, HUMAN; RNA BINDING PROTEIN;

EID: 85021789813     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dex100     Document Type: Article
Times cited : (29)

References (46)
  • 1
    • 84873712949 scopus 로고    scopus 로고
    • Cellular ontogeny of RBMY during human spermatogenesis and its role in sperm motility
    • Abid S, Sagare-Patil V, Gokral J, Modi D. Cellular ontogeny of RBMY during human spermatogenesis and its role in sperm motility. J Biosci 2013;38: 85-92.
    • (2013) J Biosci , vol.38 , pp. 85-92
    • Abid, S.1    Sagare-Patil, V.2    Gokral, J.3    Modi, D.4
  • 3
    • 0033785321 scopus 로고    scopus 로고
    • Divergent outcomes of intrachromosomal recombination on the human y chromosome: Male infertility and recurrent polymorphism
    • Blanco P, Shlumukova M, Sargent CA, Jobling MA, Affara N, Hurles ME. Divergent outcomes of intrachromosomal recombination on the human Y chromosome: Male infertility and recurrent polymorphism. J Med Genet 2000;37:752-758.
    • (2000) J Med Genet , vol.37 , pp. 752-758
    • Blanco, P.1    Shlumukova, M.2    Sargent, C.A.3    Jobling, M.A.4    Affara, N.5    Hurles, M.E.6
  • 5
    • 0030726761 scopus 로고    scopus 로고
    • Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human y chromosome
    • Chai NN, Salido EC, Yen PH. Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome. Genomics 1997;45:355-361.
    • (1997) Genomics , vol.45 , pp. 355-361
    • Chai, N.N.1    Salido, E.C.2    Yen, P.H.3
  • 7
    • 84945439843 scopus 로고    scopus 로고
    • RBMY, a novel inhibitor of glycogen synthase kinase 3, increases tumor stemness and predicts poor prognosis of hepatocellular carcinoma
    • Chua HH, Tsuei DJ, Lee PH, Jeng YM, Lu J, Wu JF, Su DS, Chen YH, Chien CS, Kao PC et al. RBMY, a novel inhibitor of glycogen synthase kinase 3, increases tumor stemness and predicts poor prognosis of hepatocellular carcinoma. Hepatology 2015;62:1480-1496.
    • (2015) Hepatology , vol.62 , pp. 1480-1496
    • Chua, H.H.1    Tsuei, D.J.2    Lee, P.H.3    Jeng, Y.M.4    Lu, J.5    Wu, J.F.6    Su, D.S.7    Chen, Y.H.8    Chien, C.S.9    Kao, P.C.10
  • 8
    • 67749099543 scopus 로고    scopus 로고
    • Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair
    • Chuzhanova N, Chen JM, Bacolla A, Patrinos GP, Férec C, Wells RD, Cooper DN. Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Hum Mutat 2009;30:1189-1198.
    • (2009) Hum Mutat , vol.30 , pp. 1189-1198
    • Chuzhanova, N.1    Chen, J.M.2    Bacolla, A.3    Patrinos, G.P.4    Férec, C.5    Wells, R.D.6    Cooper, D.N.7
  • 10
    • 79955675153 scopus 로고    scopus 로고
    • Calcium channels in the development, maturation, and function of spermatozoa
    • Darszon A, Nishigaki T, Beltran C, Treviño CL. Calcium channels in the development, maturation, and function of spermatozoa. Physiol Rev 2011;91:1305-1355.
    • (2011) Physiol Rev , vol.91 , pp. 1305-1355
    • Darszon, A.1    Nishigaki, T.2    Beltran, C.3    Treviño, C.L.4
  • 11
    • 72449183741 scopus 로고    scopus 로고
    • Human RBMY regulates germline-specific splicing events by modulating the function of the serine/arginine-rich proteins 9G8 and Tra2-{beta}
    • Dreumont N, Bourgeois CF, Lejeune F, Liu Y, Ehrmann IE, Elliott DJ, Stévenin J. Human RBMY regulates germline-specific splicing events by modulating the function of the serine/arginine-rich proteins 9G8 and Tra2-{beta}. J Cell Sci 2010;123:40-50.
    • (2010) J Cell Sci , vol.123 , pp. 40-50
    • Dreumont, N.1    Bourgeois, C.F.2    Lejeune, F.3    Liu, Y.4    Ehrmann, I.E.5    Elliott, D.J.6    Stévenin, J.7
  • 12
    • 84865692350 scopus 로고    scopus 로고
    • Efficient typing of copy number variations in a segmental duplicationmediated rearrangement hotspot using multiplex competitive amplification
    • Du R, Lu C, Jiang Z, Li S, Ma R, An H, Xu M, An Y, Xia Y, Jin L et al. Efficient typing of copy number variations in a segmental duplicationmediated rearrangement hotspot using multiplex competitive amplification. J Hum Genet 2012;57:545-551.
    • (2012) J Hum Genet , vol.57 , pp. 545-551
    • Du, R.1    Lu, C.2    Jiang, Z.3    Li, S.4    Ma, R.5    An, H.6    Xu, M.7    An, Y.8    Xia, Y.9    Jin, L.10
  • 15
    • 0033693261 scopus 로고    scopus 로고
    • RBMY genes and AZFb deletions
    • Elliott DJ. RBMY genes and AZFb deletions. J Endocrinol Invest 2000;23: 652-658.
    • (2000) J Endocrinol Invest , vol.23 , pp. 652-658
    • Elliott, D.J.1
  • 17
    • 0034766933 scopus 로고    scopus 로고
    • An inositol 1, 4, 5-trisphosphate receptor-gated intracellular Ca(2+) store is involved in regulating sperm hyperactivated motility
    • Ho HC, Suarez SS. An inositol 1, 4, 5-trisphosphate receptor-gated intracellular Ca(2+) store is involved in regulating sperm hyperactivated motility. Biol Reprod 2001;65:1606-1615.
    • (2001) Biol Reprod , vol.65 , pp. 1606-1615
    • Ho, H.C.1    Suarez, S.S.2
  • 18
    • 0037406578 scopus 로고    scopus 로고
    • Characterization of the intracellular calcium store at the base of the sperm flagellum that regulates hyperactivated motility
    • Ho HC, Suarez SS. Characterization of the intracellular calcium store at the base of the sperm flagellum that regulates hyperactivated motility. Biol Reprod 2003;68:1590-1596.
    • (2003) Biol Reprod , vol.68 , pp. 1590-1596
    • Ho, H.C.1    Suarez, S.S.2
  • 20
    • 0034330383 scopus 로고    scopus 로고
    • Natives or immigrants: Modern human origin in east Asia
    • Jin L, Su B. Natives or immigrants: modern human origin in east Asia. Nat Rev Genet 2000;1:126-133.
    • (2000) Nat Rev Genet , vol.1 , pp. 126-133
    • Jin, L.1    Su, B.2
  • 21
    • 62549109552 scopus 로고    scopus 로고
    • Copy number variation on the human y chromosome
    • Jobling MA. Copy number variation on the human Y chromosome. Cytogenet Genome Res 2008;123:253-262.
    • (2008) Cytogenet Genome Res , vol.123 , pp. 253-262
    • Jobling, M.A.1
  • 22
    • 0034641881 scopus 로고    scopus 로고
    • Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events
    • Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH. Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 2000;9:2563-2572.
    • (2000) Hum Mol Genet , vol.9 , pp. 2563-2572
    • Kamp, C.1    Hirschmann, P.2    Voss, H.3    Huellen, K.4    Vogt, P.H.5
  • 23
    • 29844448212 scopus 로고    scopus 로고
    • Whole-cell patch-clamp measurements of spermatozoa reveal an alkaline-activated Ca2+ channel
    • Kirichok Y, Navarro B, Clapham DE. Whole-cell patch-clamp measurements of spermatozoa reveal an alkaline-activated Ca2+ channel. Nature 2006;439:737-740.
    • (2006) Nature , vol.439 , pp. 737-740
    • Kirichok, Y.1    Navarro, B.2    Clapham, D.E.3
  • 24
    • 84890840832 scopus 로고    scopus 로고
    • EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State-of-the-art 2013
    • Krausz C, Hoefsloot L, Simoni M, Tüttelmann F. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology 2014;2:5-19.
    • (2014) Andrology , vol.2 , pp. 5-19
    • Krausz, C.1    Hoefsloot, L.2    Simoni, M.3    Tüttelmann, F.4
  • 27
    • 83655201186 scopus 로고    scopus 로고
    • The origin and evolution of vertebrate sex chromosomes and dosage compensation
    • Livernois AM, Graves JA, Waters PD. The origin and evolution of vertebrate sex chromosomes and dosage compensation. Heredity (Edinb) 2012;108:50-58.
    • (2012) Heredity (Edinb) , vol.108 , pp. 50-58
    • Livernois, A.M.1    Graves, J.A.2    Waters, P.D.3
  • 28
    • 6844266287 scopus 로고    scopus 로고
    • Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a y chromosome deletion interval associated with a high incidence of sperm abnormalities
    • Mahadevaiah SK, Odorisio T, Elliott DJ, Rattigan A, Szot M, Laval SH, Washburn LL, McCarrey JR, Cattanach BM, Lovell-Badge R et al. Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities. Hum Mol Genet 1998;7:715-727.
    • (1998) Hum Mol Genet , vol.7 , pp. 715-727
    • Mahadevaiah, S.K.1    Odorisio, T.2    Elliott, D.J.3    Rattigan, A.4    Szot, M.5    Laval, S.H.6    Washburn, L.L.7    McCarrey, J.R.8    Cattanach, B.M.9    Lovell-Badge, R.10
  • 29
    • 4043055834 scopus 로고    scopus 로고
    • Targeted ablation of plasma membrane Ca2+-ATPase (PMCA) 1 and 4 indicates a major housekeeping function for PMCA1 and a critical role in hyperactivated sperm motility and Male fertility for PMCA4
    • Okunade GW, Miller ML, Pyne GJ, Sutliff RL, O'Connor KT, Neumann JC, Andringa A, Miller DA, Prasad V, Doetschman T et al. Targeted ablation of plasma membrane Ca2+-ATPase (PMCA) 1 and 4 indicates a major housekeeping function for PMCA1 and a critical role in hyperactivated sperm motility and Male fertility for PMCA4. J Biol Chem2004;279:33742-33750.
    • (2004) J Biol Chem , vol.279 , pp. 33742-33750
    • Okunade, G.W.1    Miller, M.L.2    Pyne, G.J.3    Sutliff, R.L.4    O'Connor, K.T.5    Neumann, J.C.6    Andringa, A.7    Miller, D.A.8    Prasad, V.9    Doetschman, T.10
  • 30
    • 80055076248 scopus 로고    scopus 로고
    • Mathematical modeling of calcium signaling during sperm hyperactivation
    • Olson SD, Fauci LJ, Suarez SS. Mathematical modeling of calcium signaling during sperm hyperactivation. Mol Hum Reprod 2011;17:500-510.
    • (2011) Mol Hum Reprod , vol.17 , pp. 500-510
    • Olson, S.D.1    Fauci, L.J.2    Suarez, S.S.3
  • 31
    • 0032881977 scopus 로고    scopus 로고
    • Relationship of total motile sperm count and percentage motile spermto successful pregnancy rates following intrauterine insemination
    • Pasqualotto EB, Daitch JA, Hendin BN, Falcone T, Thomas AJ Jr, Nelson DR, Agarwal A. Relationship of total motile sperm count and percentage motile spermto successful pregnancy rates following intrauterine insemination. J Assist Reprod Genet 1999;16:476-482.
    • (1999) J Assist Reprod Genet , vol.16 , pp. 476-482
    • Pasqualotto, E.B.1    Daitch, J.A.2    Hendin, B.N.3    Falcone, T.4    Thomas, A.J.5    Nelson, D.R.6    Agarwal, A.7
  • 34
    • 0036782130 scopus 로고    scopus 로고
    • Recombination between palindromes P5 and P1 on the human y chromosome causes massive deletions and spermatogenic failure
    • Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, Page DC, Rozen S. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 2002;71:906-922.
    • (2002) Am J Hum Genet , vol.71 , pp. 906-922
    • Repping, S.1    Skaletsky, H.2    Lange, J.3    Silber, S.4    Van Der Veen, F.5    Oates, R.D.6    Page, D.C.7    Rozen, S.8
  • 38
    • 0033062354 scopus 로고    scopus 로고
    • Motility potential of macaque epididymal sperm: The role of protein phosphatase and glycogen synthase kinase-3 activities
    • Smith GD, Wolf DP, Trautman KC, Vijayaraghavan S. Motility potential of macaque epididymal sperm: The role of protein phosphatase and glycogen synthase kinase-3 activities. J Androl 1999;20:47-53.
    • (1999) J Androl , vol.20 , pp. 47-53
    • Smith, G.D.1    Wolf, D.P.2    Trautman, K.C.3    Vijayaraghavan, S.4
  • 39
    • 3042733025 scopus 로고    scopus 로고
    • Changes in sperm glycogen synthase kinase-3 serine phosphorylation and activity accompany motility initiation and stimulation
    • Somanath PR, Jack SL, Vijayaraghavan S. Changes in sperm glycogen synthase kinase-3 serine phosphorylation and activity accompany motility initiation and stimulation. J Androl 2004;25:605-617.
    • (2004) J Androl , vol.25 , pp. 605-617
    • Somanath, P.R.1    Jack, S.L.2    Vijayaraghavan, S.3
  • 40
    • 54449094425 scopus 로고    scopus 로고
    • Control of hyperactivation in sperm
    • Suarez SS. Control of hyperactivation in sperm. Hum Reprod Update 2008; 14:647-657.
    • (2008) Hum Reprod Update , vol.14 , pp. 647-657
    • Suarez, S.S.1
  • 41
    • 49649129159 scopus 로고    scopus 로고
    • An evolutionary perspective on Y-chromosomal variation and Male infertility
    • Tyler-Smith C. An evolutionary perspective on Y-chromosomal variation and Male infertility. Int J Androl 2008;31:376-382.
    • (2008) Int J Androl , vol.31 , pp. 376-382
    • Tyler-Smith, C.1
  • 42
    • 0034701246 scopus 로고    scopus 로고
    • RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing
    • Venables JP, Elliott DJ, Makarova OV, Makarov EM, Cooke HJ, Eperon IC. RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing. Hum Mol Genet 2000; 9:685-694.
    • (2000) Hum Mol Genet , vol.9 , pp. 685-694
    • Venables, J.P.1    Elliott, D.J.2    Makarova, O.V.3    Makarov, E.M.4    Cooke, H.J.5    Eperon, I.C.6
  • 43
    • 0034076243 scopus 로고    scopus 로고
    • A role for phosphorylation of glycogen synthase kinase-3alpha in bovine sperm motility regulation
    • Vijayaraghavan S, Mohan J, Gray H, Khatra B, Carr DW. A role for phosphorylation of glycogen synthase kinase-3alpha in bovine sperm motility regulation. Biol Reprod 2000;62:1647-1654.
    • (2000) Biol Reprod , vol.62 , pp. 1647-1654
    • Vijayaraghavan, S.1    Mohan, J.2    Gray, H.3    Khatra, B.4    Carr, D.W.5
  • 44
    • 0030047194 scopus 로고    scopus 로고
    • Sperm motility development in the epididymis is associated with decreased glycogen synthase kinase-3 and protein phosphatase 1 activity
    • Vijayaraghavan S, Stephens DT, Trautman K, Smith GD, Khatra B, da Cruz e Silva EF, Greengard P. Sperm motility development in the epididymis is associated with decreased glycogen synthase kinase-3 and protein phosphatase 1 activity. Biol Reprod 1996;54:709-718.
    • (1996) Biol Reprod , vol.54 , pp. 709-718
    • Vijayaraghavan, S.1    Stephens, D.T.2    Trautman, K.3    Smith, G.D.4    Khatra, B.5    Da Cruz Silva, E.F.6    Greengard, P.7
  • 46
    • 84930197463 scopus 로고    scopus 로고
    • Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination
    • Yang B, Ma YY, Liu YQ, Li L, Yang D, Tu WL, Shen Y, Dong Q, Yang Y. Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination. Sci Rep 2015;5:10551.
    • (2015) Sci Rep , vol.5 , pp. 10551
    • Yang, B.1    Ma, Y.Y.2    Liu, Y.Q.3    Li, L.4    Yang, D.5    Tu, W.L.6    Shen, Y.7    Dong, Q.8    Yang, Y.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.