Institute of Public Health Genetics, University of Washington, Seattle, WA, USA.
Syst Biol Reprod Med. 2010 Feb;55:18-26. doi: 10.3109/19396360903312015.
Protein expression data suggests that the SPANX gene family is expressed throughout spermatogenesis, including post-meiotic expression, consistent with a potential role in sperm development. The genomic architecture of this region is unstable and past studies have found evidence of variation in this gene family. This study used a novel assay to evaluate copy number variation (CNV) in SPANX gene family, in fertile and infertile men. The case group was comprised of 50 oligozoospermic and 50 azoospermic men, and the control group was comprised of 67 normozoospermic men with children. The assay, real-time quantitative PCR, evaluated CNV of the entire gene cluster containing all four SPANXA-E genes and with SPANXB, found exclusively in maturing sperm. While variation was found in both groups, average CNV patterns did not differ between fertile and infertile males. As this was a targeted assay, it was limited in scope to detect further CNV at a genome-wide level which is an area of increasing interest in the field of genomics.
蛋白质表达数据表明，SPANX 基因家族在整个精子发生过程中表达，包括减数分裂后表达，这与精子发育的潜在作用一致。该区域的基因组结构不稳定，过去的研究已经发现该基因家族存在变异的证据。本研究使用一种新的检测方法评估了 SPANX 基因家族在生育能力正常和不育男性中的拷贝数变异（CNV）。病例组由 50 名少精子症和 50 名无精子症男性组成，对照组由 67 名有孩子的生育能力正常的男性组成。该检测方法，实时定量 PCR，评估了包含所有四个 SPANXA-E 基因和仅存在于成熟精子中的 SPANXB 的整个基因簇的 CNV。虽然在两组中都发现了变异，但生育能力正常和不育男性之间的平均 CNV 模式没有差异。由于这是一种靶向检测方法，因此其范围仅限于在全基因组水平上检测进一步的 CNV，这是基因组学领域日益关注的一个领域。
