- 作者：Katja Anette Hose ; Kristina Hä ; ffner ; Daniela Fietz ; Jö ; rg Gromoll ; Thomas Eckert ; Sabine Kliesch ; Hans-Christian Siebert ; Martin Bergmann
- 关键词：Sertoli-cell-only syndrome ; androgen receptor ; sequence variation
- 刊名：Fertility and Sterility
- 出版年：2009
- 出版时间：July 2009
- 年：2009
- 卷：92
- 期：1
- 页码：390.e9-390.e11
- 全文大小：194 K
Objective
To study a novel sequence variation within the androgen receptors' N-terminal CAG repeat region and possible resulting consequences for the receptors' three-dimensional (3D) protein structure.Design
Controlled clinical study.
Setting
University research and andrology clinic.
Patient(s)
Twenty-one adult infertile men.
Intervention(s)
Ultraviolet laser–assisted microdissection (PALM, Microlaser Technology AG, Bernried, Germany), cloning into pGEM-T vector (Promega, Madison, WI), automated sequencing (Gene Scan 3.7 ABI Prim, Applied Biosystems, Foster City, CA), and Assisted Model Building with Energy Refinement (AMBER).
Main Outcome Measure(s)
Determination of the sequence of the CAG repeat of the androgen receptor gene and analysis of the 3D protein structure.
Results(s)
In one hypergonadotropic azoospermic patient with Sertoli-cell-only syndrome, we found a punctual sequence variation of 212A→G in the CAG repeat resulting in a glutamine-arginine substitution, which leads to a moderate conformational change of the α-helix from 34 Å in length and 16 Å in diameter (without mutation) to a slightly longer helix (43 Å) with a smaller diameter (15 Å).
Conclusion(s)
Whether the novel 212A→G exchange in the CAG repeat leading to a glutamine→arginine substitution and a change in α-helix structure may causally be related to the Sertoli-cell-only phenotype of the patient remains to be elucidated.