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Volumn 4, Issue 8, 1998, Pages 763-768

Y chromosome microdeletions, in azoospermic or near-azoospermic subjects, are located in the AZFc (DAZ) subregion

Author keywords

Androgen receptor; Defective spermatogenesis; Y chromosome microdeletions

Indexed keywords

ARTICLE; AZOOSPERMIA; CHINESE; CHROMOSOME DELETION Y; CHROMOSOME YQ; CLINICAL ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE LOCATION; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; SPERMATOGENESIS;

EID: 0031849301     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/4.8.763     Document Type: Article
Times cited : (48)

References (38)
  • 1
    • 0020415365 scopus 로고
    • The frequency of androgen receptor deficiency in infertile men
    • Aiman, J. and Griffin, J.E. (1982) The frequency of androgen receptor deficiency in infertile men. J Clin. Endocrinol. Metab., 54, 725-732.
    • (1982) J Clin. Endocrinol. Metab. , vol.54 , pp. 725-732
    • Aiman, J.1    Griffin, J.E.2
  • 2
    • 0026329260 scopus 로고
    • Evidence for a partial deletion in the androgen receptor gene in a phenotypic male with azoospermia
    • Akin, J.W., Behzadian, A., Tho, S.P. et al. (1991) Evidence for a partial deletion in the androgen receptor gene in a phenotypic male with azoospermia. Am. J. Obstet. Gynecol., 165, 1891-1894.
    • (1991) Am. J. Obstet. Gynecol. , vol.165 , pp. 1891-1894
    • Akin, J.W.1    Behzadian, A.2    Tho, S.P.3
  • 3
    • 6844252248 scopus 로고    scopus 로고
    • Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr interval of the mouse Y chromosome of the Dffry gene
    • Brown, G.M., Furlong, R.A., Sargeant, C.A. et al. (1998) Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr interval of the mouse Y chromosome of the Dffry gene. Hum Mol. Genet., 7, 97-107.
    • (1998) Hum Mol. Genet. , vol.7 , pp. 97-107
    • Brown, G.M.1    Furlong, R.A.2    Sargeant, C.A.3
  • 4
    • 0030726761 scopus 로고    scopus 로고
    • Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the Y chromosome
    • Chai, N.N., Salido, E.C. and Yen, P.H. (1997) Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the Y chromosome. Genomics, 45, 355-361.
    • (1997) Genomics , vol.45 , pp. 355-361
    • Chai, N.N.1    Salido, E.C.2    Yen, P.H.3
  • 5
    • 0028033594 scopus 로고
    • The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function
    • Chamberlain, N.L., Driver, E.D. and Miesfeld, R.L. (1994) The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucl. Acids Res., 22, 3181-3186.
    • (1994) Nucl. Acids Res. , vol.22 , pp. 3181-3186
    • Chamberlain, N.L.1    Driver, E.D.2    Miesfeld, R.L.3
  • 6
    • 12644310287 scopus 로고    scopus 로고
    • Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm
    • Elliot, D.J., Millar, M.R., Oghene, K. et al. (1997) Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc. Natl. Acad. Sci. USA, 94, 3848-3853.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 3848-3853
    • Elliot, D.J.1    Millar, M.R.2    Oghene, K.3
  • 7
    • 0027513379 scopus 로고
    • The role of sex determining region Y gene in the etiology of 46,XX maleness
    • Fechner, P.Y., Marcantonio, S.M. Jaswaney, V. et al. (1993) The role of sex determining region Y gene in the etiology of 46,XX maleness. J. Clin. Endocrinol. Metab., 76, 690-695.
    • (1993) J. Clin. Endocrinol. Metab. , vol.76 , pp. 690-695
    • Fechner, P.Y.1    Marcantonio, S.M.2    Jaswaney, V.3
  • 8
    • 0026726412 scopus 로고
    • The human Y chromosome: Overlapping DNA clones spanning the euchromatic region
    • Foote, S., Vollrath, D., Hilton, A. et al. (1992) The human Y chromosome: Overlapping DNA clones spanning the euchromatic region. Science, 258, 60-66.
    • (1992) Science , vol.258 , pp. 60-66
    • Foote, S.1    Vollrath, D.2    Hilton, A.3
  • 9
    • 0030904952 scopus 로고    scopus 로고
    • A Y chromosome deletions in idiopathic severe testiculopathies
    • Foresta, C., Ferlin, A., Garolla, A et al (1997) A Y chromosome deletions in idiopathic severe testiculopathies. J. Clin. Endocrinol. Metab., 82, 1075-1080.
    • (1997) J. Clin. Endocrinol. Metab. , vol.82 , pp. 1075-1080
    • Foresta, C.1    Ferlin, A.2    Garolla, A.3
  • 10
    • 0030883296 scopus 로고    scopus 로고
    • Submicroscopic deletions in the Y chromosome of infertile men
    • Girardi, S.K., Mielnik, A. and Schlegel, P.N. (1997) Submicroscopic deletions in the Y chromosome of infertile men. Hum. Reprod., 12, 1635-1641.
    • (1997) Hum. Reprod. , vol.12 , pp. 1635-1641
    • Girardi, S.K.1    Mielnik, A.2    Schlegel, P.N.3
  • 11
    • 0028114292 scopus 로고
    • PCR analysis of the Y chromosome long arm in azoospermic patients: Evidence for a second locus required for spermatogenesis
    • Kobayashi, K., Mizuno, K., Hida, A. et al. (1994) PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis Hum Mol. Genet., 3, 1965-1967.
    • (1994) Hum Mol. Genet. , vol.3 , pp. 1965-1967
    • Kobayashi, K.1    Mizuno, K.2    Hida, A.3
  • 12
    • 0030973347 scopus 로고    scopus 로고
    • Microdeletions of the Y chromosome and intracytoplasmic sperm injection: From gene to clinic
    • Kremer, J.A,. Tuerlings, J.H., Meuleman, E J. et al. (1997) Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic Hum. Reprod., 12, 687-691.
    • (1997) Hum. Reprod. , vol.12 , pp. 687-691
    • Kremer, J.A.1    Tuerlings, J.H.2    Meuleman, E.J.3
  • 13
    • 0027715823 scopus 로고
    • A Y chromosome gene family with RNA-binding protein homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis
    • Ma, K., Inglis, J.D., Sharkey, A. et al (1993) A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell, 75, 1287-1295.
    • (1993) Cell , vol.75 , pp. 1287-1295
    • Ma, K.1    Inglis, J.D.2    Sharkey, A.3
  • 14
    • 0031037973 scopus 로고    scopus 로고
    • Expression of DAZ, an azoospermia factor candidate, in human spermatogonia
    • Menke, D.B., Mutter, G.L. and Page, D.C. (1997) Expression of DAZ, an azoospermia factor candidate, in human spermatogonia. Am. J. Hum. Genet., 60, 237-241.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 237-241
    • Menke, D.B.1    Mutter, G.L.2    Page, D.C.3
  • 15
    • 0031135612 scopus 로고    scopus 로고
    • The molecular genetics of male infertility
    • Meschede, D. and Horst, J. (1997) The molecular genetics of male infertility Mol. Hum. Reprod., 3, 419-430.
    • (1997) Mol. Hum. Reprod. , vol.3 , pp. 419-430
    • Meschede, D.1    Horst, J.2
  • 16
    • 0023227138 scopus 로고
    • Variable androgen receptor levels in infertile men
    • Morrow, A.F., Gyorki, S., Warne, G.L. et al. (1987) Variable androgen receptor levels in infertile men. J Clin. Endocrinol Metab., 64, 1115-1121
    • (1987) J Clin. Endocrinol Metab. , vol.64 , pp. 1115-1121
    • Morrow, A.F.1    Gyorki, S.2    Warne, G.L.3
  • 17
    • 9244243681 scopus 로고    scopus 로고
    • Substantial prevalence of microdeletions of the Y chromosome in infertile men with idiopathic azoospermia and oligospermia detected using a sequence-tagged site-based mapping strategy
    • Najmabadi, H., Huang, V., Yen, P. et al. (1996) Substantial prevalence of microdeletions of the Y chromosome in infertile men with idiopathic azoospermia and oligospermia detected using a sequence-tagged site-based mapping strategy. J. Clin. Endocrinol. Metab., 81, 1347-1352
    • (1996) J. Clin. Endocrinol. Metab. , vol.81 , pp. 1347-1352
    • Najmabadi, H.1    Huang, V.2    Yen, P.3
  • 18
    • 0031467546 scopus 로고    scopus 로고
    • Part of the RBM gene cluster is located distally to the DAZ cluster in human Yq11.23
    • Pasantes, J.J., Rottger, S. and Schempp, W (1997) Part of the RBM gene cluster is located distally to the DAZ cluster in human Yq11.23. Chromosome Res., 5, 537-540.
    • (1997) Chromosome Res. , vol.5 , pp. 537-540
    • Pasantes, J.J.1    Rottger, S.2    Schempp, W.3
  • 19
    • 0031050740 scopus 로고    scopus 로고
    • Microdeletions in the Y chromosome of infertile men
    • Pryor, J L., Kent-First, M., Muallem, A. et al. (1997) Microdeletions in the Y chromosome of infertile men. N. Engl. J. Med., 336, 534-539.
    • (1997) N. Engl. J. Med. , vol.336 , pp. 534-539
    • Pryor, J.L.1    Kent-First, M.2    Muallem, A.3
  • 20
    • 0029069878 scopus 로고
    • Androgen receptor defects: Historical, clinical and molecular perspectives
    • Quigley, C.A., De Bellis, A., Marschke K.B. et al (1995) Androgen receptor defects: historical, clinical and molecular perspectives. Endocr. Rev., 16, 271-321.
    • (1995) Endocr. Rev. , vol.16 , pp. 271-321
    • Quigley, C.A.1    De Bellis, A.2    Marschke, K.B.3
  • 21
    • 0030253042 scopus 로고    scopus 로고
    • Polymerase chain reaction screening for Y chromosome microdeletions: A first step towards the diagnosis of genetically determined spermatogenic failure in men
    • Qureshi, S.J,. Ross, A.R., Ma, K. et al. (1996) Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically determined spermatogenic failure in men. Mol. Hum. Reprod., 2, 775-779.
    • (1996) Mol. Hum. Reprod. , vol.2 , pp. 775-779
    • Qureshi, S.J.1    Ross, A.R.2    Ma, K.3
  • 22
    • 0029088061 scopus 로고
    • Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene
    • Reijo, R., Lee, T.Y., Salo, P. et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet., 10, 383-393.
    • (1995) Nature Genet. , vol.10 , pp. 383-393
    • Reijo, R.1    Lee, T.Y.2    Salo, P.3
  • 23
    • 0029871858 scopus 로고    scopus 로고
    • Severe oligospermia resulting from deletions of azoospermia factor gene on Y chromosome
    • Reijo, R., Alagappan, R.K., Patrizio, P. et al. (1996) Severe oligospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet, 347, 1290-1293.
    • (1996) Lancet , vol.347 , pp. 1290-1293
    • Reijo, R.1    Alagappan, R.K.2    Patrizio, P.3
  • 25
    • 0030885623 scopus 로고    scopus 로고
    • The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis
    • Ruggiu, M., Speed, R., Taggart, M. et al (1997) The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis. Nature, 389, 73-77.
    • (1997) Nature , vol.389 , pp. 73-77
    • Ruggiu, M.1    Speed, R.2    Taggart, M.3
  • 26
    • 0030292382 scopus 로고    scopus 로고
    • The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned
    • Saxena, R., Brown, L.G., Hawkins, T. et al. (1996) The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet., 14, 292-299.
    • (1996) Nature Genet. , vol.14 , pp. 292-299
    • Saxena, R.1    Brown, L.G.2    Hawkins, T.3
  • 27
    • 0031242638 scopus 로고    scopus 로고
    • Assisted reproductive technology and complex chromosomal arrangements: The limits of ICSI
    • Siffroi, J.P., Benzacken, B., Straub, B. et al (1997) Assisted reproductive technology and complex chromosomal arrangements: the limits of ICSI. Mol. Hum. Reprod., 3, 847-851.
    • (1997) Mol. Hum. Reprod. , vol.3 , pp. 847-851
    • Siffroi, J.P.1    Benzacken, B.2    Straub, B.3
  • 28
    • 0031024316 scopus 로고    scopus 로고
    • Screening for deletions of the Y chromosome involving the DAZ (Deleted in Azoospermia) gene in azoospermia and severe oligospermia
    • Simoni, M., Gromoll, J., Dworniczak, B. et al. (1997) Screening for deletions of the Y chromosome involving the DAZ (Deleted in Azoospermia) gene in azoospermia and severe oligospermia. Fertil. Steril., 67, 542-547.
    • (1997) Fertil. Steril. , vol.67 , pp. 542-547
    • Simoni, M.1    Gromoll, J.2    Dworniczak, B.3
  • 29
    • 0029965983 scopus 로고    scopus 로고
    • Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia
    • Stuppia, L., Mastroprimiano, G , Calabrese, G. et al. (1996) Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet. Cell Genet., 72, 155-158.
    • (1996) Cytogenet. Cell Genet. , vol.72 , pp. 155-158
    • Stuppia, L.1    Mastroprimiano, G.2    Calabrese, G.3
  • 30
    • 0017119580 scopus 로고
    • Localization of factors controlling spermatogenesis in the non-fluorescent portion of the human Y chromosome long arm
    • Tiepolo, L. and Zuffardi, O. (1976) Localization of factors controlling spermatogenesis in the non-fluorescent portion of the human Y chromosome long arm. Human Genet., 34, 119-124.
    • (1976) Human Genet. , vol.34 , pp. 119-124
    • Tiepolo, L.1    Zuffardi, O.2
  • 31
    • 0030694396 scopus 로고    scopus 로고
    • Long polyglutamine tracts in the androgen receptor are associated with reduced transactivation, defective sperm production and male infertility
    • Tut, T.G., Ghadessy, F., Trifiro, M.A. et al. (1997) Long polyglutamine tracts in the androgen receptor are associated with reduced transactivation, defective sperm production and male infertility. J. Clin. Endocrinol. Metab., 82, 3777-3782.
    • (1997) J. Clin. Endocrinol. Metab. , vol.82 , pp. 3777-3782
    • Tut, T.G.1    Ghadessy, F.2    Trifiro, M.A.3
  • 32
    • 0030634920 scopus 로고    scopus 로고
    • Absence of DAZ gene mutations in cases of non-obstructed azoospermia
    • Vereb, M., Agulnik, A.I., Houston, J.T. et al. (1997) Absence of DAZ gene mutations in cases of non-obstructed azoospermia. Mol. Hum. Reprod., 3, 55-59.
    • (1997) Mol. Hum. Reprod. , vol.3 , pp. 55-59
    • Vereb, M.1    Agulnik, A.I.2    Houston, J.T.3
  • 33
    • 0007272350 scopus 로고    scopus 로고
    • Human Y chromosome azoospermia factors (AZf) mapped to different subrogions in Yq11
    • Vogt, P.H., Edelmann, A., Kirsch, S. et al (1996) Human Y chromosome azoospermia factors (AZf) mapped to different subrogions in Yq11. Hum. Mol. Genet., 5, 933-943.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 933-943
    • Vogt, P.H.1    Edelmann, A.2    Kirsch, S.3
  • 34
    • 0026756965 scopus 로고
    • The human Y chromosome: A 43-interval map based on naturally occurring deletions
    • Vollrath, D., Foote, S., Hilton, A. et al. (1992) The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science, 258, 52-59.
    • (1992) Science , vol.258 , pp. 52-59
    • Vollrath, D.1    Foote, S.2    Hilton, A.3
  • 36
    • 0029842285 scopus 로고    scopus 로고
    • The human autosomal gene DAZLA: Testis specificity and a candidate for male infertility
    • Yen, P.H , Chai, N.N and Salido, E.C. (1996) The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Hum. Mol. Genet., 5, 2013-2017.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 2013-2017
    • Yen, P.H.1    Chai, N.N.2    Salido, E.C.3
  • 37
    • 0028278532 scopus 로고
    • Complete androgen insensitivity due to a splice-site mutation in the androgen receptor gene and genetic screening with single stranded conformation polymorphism
    • Yong, E.L., Chua, K.L., Yang, M et al. (1994a) Complete androgen insensitivity due to a splice-site mutation in the androgen receptor gene and genetic screening with single stranded conformation polymorphism. Fertil. Steril., 61, 856-862.
    • (1994) Fertil. Steril. , vol.61 , pp. 856-862
    • Yong, E.L.1    Chua, K.L.2    Yang, M.3
  • 38
    • 0028023193 scopus 로고
    • Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in the androgen receptor gene
    • Yong, E.L., Ng, S.C., Roy, A.C. et al. (1994b) Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in the androgen receptor gene. Lancet, 344, 826-827.
    • (1994) Lancet , vol.344 , pp. 826-827
    • Yong, E.L.1    Ng, S.C.2    Roy, A.C.3


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