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Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene

Publication ,  Journal Article
Reijo, R; Lee, TY; Salo, P; Alagappan, R; Brown, LG; Rosenberg, M; Rozen, S; Jaffe, T; Straus, D; Hovatta, O; De La Chapelle, A; Silber, S; Page, DC
Published in: Human Reproduction
January 1, 1996

We have detected deletions of portions of the Y chromosome long arm in 12 of 89 men with azoospermia (no spermatozoa in their semen). No Y deletions were detected in their male relatives or in 90 other fertile males. The 12 deletions overlap, defining a region likely to contain one or more genes required for spermatogenesis (the azoospermia factor, AZF). Deletion of the AZF region is associated with highly variable testicular defects, ranging from the complete absence of germ cells to spermatogenic arrest with the occasional production of condensed spermatids. We found no evidence of YRRM genes, recently proposed as AZF candidates in the AZF region. The region contains a single-copy gene, DAZ (deleted in azoospermia), which is transcribed in the adult testis and appears to encode an RNA-binding protein. The possibility that DAZ is AZF should now be explored.

Duke Scholars

Published In

Human Reproduction

DOI

ISSN

0268-1161

Publication Date

January 1, 1996

Volume

11

Issue

SUPPL. 4

Start / End Page

27 / 49

Related Subject Headings

  • Obstetrics & Reproductive Medicine
  • 3215 Reproductive medicine
  • 16 Studies in Human Society
  • 11 Medical and Health Sciences
 

Citation

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Reijo, R., Lee, T. Y., Salo, P., Alagappan, R., Brown, L. G., Rosenberg, M., … Page, D. C. (1996). Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Human Reproduction, 11(SUPPL. 4), 27–49. https://doi.org/10.1093/humrep/11.suppl_4.27
Reijo, R., T. Y. Lee, P. Salo, R. Alagappan, L. G. Brown, M. Rosenberg, S. Rozen, et al. “Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene.” Human Reproduction 11, no. SUPPL. 4 (January 1, 1996): 27–49. https://doi.org/10.1093/humrep/11.suppl_4.27.
Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Human Reproduction. 1996 Jan 1;11(SUPPL. 4):27–49.
Reijo, R., et al. “Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene.” Human Reproduction, vol. 11, no. SUPPL. 4, Jan. 1996, pp. 27–49. Scopus, doi:10.1093/humrep/11.suppl_4.27.
Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, De La Chapelle A, Silber S, Page DC. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Human Reproduction. 1996 Jan 1;11(SUPPL. 4):27–49.
Journal cover image

Published In

Human Reproduction

DOI

ISSN

0268-1161

Publication Date

January 1, 1996

Volume

11

Issue

SUPPL. 4

Start / End Page

27 / 49

Related Subject Headings

  • Obstetrics & Reproductive Medicine
  • 3215 Reproductive medicine
  • 16 Studies in Human Society
  • 11 Medical and Health Sciences