Y chromosome microdeletions and alterations of spermatogenesis

被引:351
作者
Foresta, C [1 ]
Moro, E [1 ]
Ferlin, A [1 ]
机构
[1] Univ Padua, Dept Med & Surg Sci, Clin Med 3, I-35128 Padua, Italy
关键词
D O I
10.1210/er.22.2.226
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Three different spermatogenesis loci have been mapped on the Y chromosome and named "azoospermia factors" (AZFa, b, and c). Deletions in these regions remove one or more of the candidate genes (DAZ, RBMY, USP9Y, and DBY) and cause severe testiculopathy leading to male infertility. We have reviewed the literature and the most recent advances in Y chromosome mapping, focusing our attention on the correlation between Y chromosome microdeletions and alterations of spermatogenesis. More than 4,800 infertile patients were screened for Y microdeletions and published. Such deletions determine azoospermia more frequently than severe oligozoospermia and involve especially the AZFc region including the DAZ gene family. Overall, the prevalence of Y chromosome microdeletions is 4% in oligozoospermic patients, 14% in idiopathic severely oligozoospermic men, 11% in azoospermic men, and 18% in idiopathic azoospermic subjects. Patient selection criteria appear to substantially influence the prevalence of microdeletions. No clear correlation exists between the size and localization of the deletions and the testicular phenotype. However, it is clear that larger deletions are associated with the most severe testicular damage. Patients with Y chromosome deletions frequently have sperm either in the ejaculate or within the testis and are therefore suitable candidates for assisted reproduction techniques. This possibility raises a number of medical and ethical concerns, since the use of spermatozoa carrying Y chromosome deletions may produce pregnancies, but in such cases the genetic anomaly will invariably be passed on to male offspring.
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页码:226 / 239
页数:14
相关论文
共 123 条
  • [81] Microdeletions in the Y chromosome of infertile men
    Pryor, JL
    KentFirst, M
    Muallem, A
    VanBergen, AH
    Nolten, WE
    Meisner, L
    Roberts, KP
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1997, 336 (08) : 534 - 539
  • [82] 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.
    Cooke, H. J.
    Mc Lntyre, M. A.
    Chandley, A. C.
    Hargreave, T. B.
    [J]. MOLECULAR HUMAN REPRODUCTION, 1996, 2 (10) : 775 - 779
  • [83] DIVERSE SPERMATOGENIC DEFECTS IN HUMANS CAUSED BY Y-CHROMOSOME DELETIONS ENCOMPASSING A NOVEL RNA-BINDING PROTEIN GENE
    REIJO, R
    LEE, TY
    SALO, P
    ALAGAPPAN, R
    BROWN, LG
    ROSENBERG, M
    ROZEN, S
    JAFFE, T
    STRAUS, D
    HOVATTA, O
    DELACHAPELLE, A
    SILBER, S
    PAGE, DC
    [J]. NATURE GENETICS, 1995, 10 (04) : 383 - 393
  • [84] Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome
    Reijo, R
    Alagappan, RK
    Patrizio, P
    Page, DC
    [J]. LANCET, 1996, 347 (9011) : 1290 - 1293
  • [85] Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty
    Reijo, R
    Seligman, J
    Dinulos, MB
    Jaffe, T
    Brown, LG
    Disteche, CM
    Page, DC
    [J]. GENOMICS, 1996, 35 (02) : 346 - 352
  • [86] High fertilization rate in conventional in-vitro fertilization utilizing spermatozoa from an oligozoospermic subject presenting microdeletions of the Y chromosome long arm
    Rossato, M
    Ferlin, A
    Garolla, A
    Pistorello, M
    Foresta, C
    [J]. MOLECULAR HUMAN REPRODUCTION, 1998, 4 (05) : 473 - 476
  • [87] Preoperative screening for genetic abnormalities in men with nonobstructive azoospermia before testicular sperm extraction
    Rucker, GB
    Mielnik, A
    King, P
    Goldstein, M
    Schlegel, PN
    [J]. JOURNAL OF UROLOGY, 1998, 160 (06) : 2068 - 2071
  • [88] Salas-Cortés L, 1999, INT J DEV BIOL, V43, P135
  • [89] Sargent CA, 1999, J MED GENET, V36, P670
  • [90] The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned
    Saxena, R
    Brown, LG
    Hawkins, T
    Alagappan, RK
    Skaletsky, H
    Reeve, MP
    Reijo, R
    Rozen, S
    Dinulos, MB
    Disteche, CM
    Page, DC
    [J]. NATURE GENETICS, 1996, 14 (03) : 292 - 299