Turner R M, Foster J A, Gerton G L, Moss S B, Patrizio P
Center for Research on Reproduction and Women's Health, Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia 19104, USA.
Fertil Steril. 2001 Aug;76(2):267-74. doi: 10.1016/s0015-0282(01)01922-7.
To determine whether mutations in the pro-hAKAP82 gene and the resulting pro-hAKAP82 and hAKAP82 proteins were associated with the infertility seen in a patient with stump tail sperm.
Case report.
Academic research and teaching environment, tertiary care hospital.
PATIENT(S): A single, infertile Caucasian male diagnosed with essentially 100% stump tail sperm.
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): Electrophoresis, silver staining, and immunoblotting of patient and control sperm proteins; RII (type II regulatory subunit of protein kinase-A) overlay assay of patient and control sperm proteins, partial DNA sequence analysis of patient's pro-hAKAP82 gene; indirect immunofluorescence and immunogold electron microscopy of patient and control sperm.
RESULTS(S): No significant abnormalities in the size or amount of pro-hAKAP82 and hAKAP82 or in the ability of these proteins to bind the regulatory subunit of protein kinase-A were identified in the patient's sperm. Partial sequence analysis of the patient's pro-hAKAP82 gene was identical to the published normal sequence. Indirect immunofluorescence and immunoelectron microscopy of sperm localized pro-hAKAP82/hAKAP82 to the sperm flagellum and demonstrated that the proteins were present in a disorganized, amorphous region, which apparently represented the fibrous sheath.
CONCLUSION(S): These results suggest that, although pro-hAKAP82 and hAKAP82 localize to the correct structural component of the flagellum and are not directly responsible for the stump tail phenotype, they are unable to assemble normally into the fibrous sheath. Although this study did not identify abnormalities in the pro-hAKAP82 gene or its resulting proteins in a patient with stump tail sperm, several regions of the gene and protein remain to be examined.
确定前体人A激酶锚定蛋白82（pro-hAKAP82）基因中的突变以及由此产生的前体pro-hAKAP82和人A激酶锚定蛋白82（hAKAP82）蛋白是否与一名患有短尾精子的患者的不育症有关。
病例报告。
学术研究和教学环境，三级护理医院。
一名不育的白人男性，被诊断为基本上100%为短尾精子。
无。
患者和对照精子蛋白的电泳、银染和免疫印迹；患者和对照精子蛋白的蛋白激酶A II型调节亚基（RII）覆盖分析；患者前体pro-hAKAP82基因的部分DNA序列分析；患者和对照精子的间接免疫荧光和免疫金电子显微镜检查。
在患者精子中未发现pro-hAKAP82和hAKAP82的大小或数量有明显异常，也未发现这些蛋白结合蛋白激酶A调节亚基的能力有明显异常。患者前体pro-hAKAP82基因的部分序列分析与已发表的正常序列相同。精子的间接免疫荧光和免疫电子显微镜检查将前体pro-hAKAP82/hAKAP82定位到精子鞭毛，并表明这些蛋白存在于一个无序的无定形区域，该区域显然代表纤维鞘。
这些结果表明，尽管前体pro-hAKAP82和hAKAP82定位于鞭毛的正确结构成分，且不是短尾表型的直接原因，但它们无法正常组装到纤维鞘中。尽管本研究未在一名患有短尾精子的患者中发现前体pro-hAKAP82基因或其产生的蛋白有异常，但该基因和蛋白的几个区域仍有待研究。
