罗伯逊易位（11；13）小鼠的染色体畸变与精子发生障碍
Chromosome aberrations and spermatogenic disorders in mice with Robertsonian translocation (11; 13).
作者信息
Zhuang Xinjie, Huang Jin, Jin Xiaohu, Yu Yang, Li Junsheng, Qiao Jie, Liu Ping
机构信息
Reproductive Medicine Center, Department of Obstetrics and Gynecology, Peking University Third Hospital Beijing, China ; Key Laboratory of Assisted Reproduction, Ministry of Education Beijing, China ; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproduction Beijing, China.
出版信息
Int J Clin Exp Pathol. 2014 Oct 15;7(11):7735-43. eCollection 2014.
OBJECTIVE
To determine the diagnostic features of Robertsonian (Rob) translocation (11; 13) in mice and the mechanisms underlying the effect on spermatogenesis and reproductive decline.
METHODS
A Rob translocation (11; 13) mouse model was established by cross-breeding, and confirmed by chromosome analysis. Chromosome aberrations and translocation patterns were identified in mice with Rob translocation (11; 13) by fluorescence in situ hybridization (FISH). Spermatogenic disorders were investigated at different stages of spermatogenesis. Immunofluorescent analysis was performed on sections of testis and epididymis specimens during spermatogenic meiosis. The weight of the testes and reproductive decline were recorded.
RESULTS
The crossed Rob translocation (11; 13) mouse has 39 chromosomes, including a fusion chromosome (included chromosomes 11 and 13) using dual color FISH. There was no difference in the distribution pattern of SYCP3 and γH2AX in spermatocytes between Rob translocation and wild-type mice; however, round haploid spermatids presented characteristic morphologic changes of apoptosis and the number of haploid spermatids was decreased. Furthermore, the immature germ cells were released into the epididymis and the number of mature sperm was reduced.
CONCLUSIONS
Chromosome aberrations and spermatogenic disorders may result from apoptosis of round haploid spermatids and a reduced number of mature sperm in Rob translocation (11; 13) mice. Abnormal sperm and reduced number of sperm may be one of the main reasons for reproductive decline and male infertility in Rob translocation (11; 13) mice.
目的
确定小鼠罗伯逊易位（Rob）（11；13）的诊断特征以及其对精子发生和生殖功能衰退影响的潜在机制。
方法
通过杂交建立罗伯逊易位（11；13）小鼠模型，并通过染色体分析进行确认。利用荧光原位杂交（FISH）技术鉴定罗伯逊易位（11；13）小鼠的染色体畸变和易位模式。在精子发生的不同阶段研究精子发生障碍。对精子发生减数分裂期间的睾丸和附睾标本切片进行免疫荧光分析。记录睾丸重量和生殖功能衰退情况。
结果
通过双色FISH技术发现，杂交产生的罗伯逊易位（11；13）小鼠有39条染色体，包括一条融合染色体（包含11号和13号染色体）。罗伯逊易位小鼠和野生型小鼠的精母细胞中SYCP3和γH2AX的分布模式没有差异；然而，圆形单倍体精子细胞呈现出凋亡的特征性形态变化，单倍体精子细胞数量减少。此外，未成熟生殖细胞释放到附睾中，成熟精子数量减少。
结论
罗伯逊易位（11；13）小鼠的圆形单倍体精子细胞凋亡和成熟精子数量减少可能导致染色体畸变和精子发生障碍。异常精子和精子数量减少可能是罗伯逊易位（11；13）小鼠生殖功能衰退和雄性不育的主要原因之一。
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