Infertility associated with meiotic failure in the tremor rat (tm/tm) is caused by the deletion of spermatogenesis associated 22.
Infertility associated with meiotic failure in the tremor rat (tm/tm) is caused by the deletion of spermatogenesis associated 22.
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DOI：
10.1538/expanim.62.219
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发表时间：
2013
影响因子：
2.4
通讯作者：
Kitada K
中科院分区：
文献类型：
--
作者：
Ishishita S;Inui T;Matsuda Y;Serikawa T;Kitada K
震颤大鼠是一种常染色体隐性突变体，表现为不育，性腺发育不全，在两个性别。致病突变tremor（tm）已知为Chr 10q24中跨越>200 kb的基因组缺失。Spata 22是一个脊椎动物特有的基因，在减数分裂前期Ⅰ和染色体联会及减数分裂重组过程中起重要作用。在这项研究中，我们表明，Spata22被确定为基因负责的配子发生的失败，以超越减数分裂I在TM纯合子大鼠的转基因救援实验。减数分裂被逮捕在前期I在突变体睾丸。断裂点的精确定位显示，缺失的基因组区域跨越约240 kb，包含至少13个基因，包括Spata 22。大鼠Spata 22主要在睾丸中表达，其转录随着精子发生的第一波而增加，如在小鼠直系同源物中所见。这些结果表明，Spata22可能在大鼠减数分裂前期I中发挥重要作用，如在小鼠中所见，TM纯合子大鼠可能有助于研究Spata22的生理功能，作为一个实验系统，用于澄清无效突变的影响，并可能是一种动物模型，用于研究减数分裂受损引起的不育症的发病机制和治疗。
The tremor rat is an autosomal recessive mutant exhibiting sterility with gonadal hypoplasia in both sexes. The causative mutation tremor (tm) is known as a genomic deletion spanning >200 kb in Chr 10q24. Spermatogenesis associated 22 (Spata22) has been shown to be a vertebrate-specific gene essential for the progression of meiosis through prophase I and completion of chromosome synapsis and meiotic recombination using a mouse repro42 mutant carrying an N-ethyl-N-nitrosourea (ENU)-induced nonsense mutation in Spata22. In this study, we show that Spata22 was identified as the gene responsible for the failure of gametogenesis to progress beyond meiosis I in tm homozygous rats by a transgenic rescue experiment. Meiosis was arrested during prophase I in the mutant testis. Precise mapping of the breakage point revealed that the deleted genomic region spanned approximately 240 kb and comprised at least 13 genes, including Spata22. Rat Spata22 was predominantly expressed in the testis, and its transcription increased with the first wave of spermatogenesis, as seen in the mouse ortholog. These results suggest that Spata22 may play an important role in meiotic prophase I in rats, as seen in mice, and that the tm homozygous rat may be useful for investigating the physiological function of Spata22, as an experimental system for clarifying the effect of a null mutation, and may be an animal model for studying the pathogenesis and treatment of infertility caused by impaired meiosis.
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影响因子：
4.7
作者：
Spehr M;Munger SD
通讯作者：
Munger SD
影响因子：
11.4
作者：
Roeder, GS;Bailis, JM
通讯作者：
Bailis, JM
DOI：
10.1159/000131565
发表时间：
1981-01-01
期刊：
CYTOGENETICS AND CELL GENETICS
影响因子：
--
作者：
IMAI, HT;MATSUDA, Y;MORIWAKI, K
通讯作者：
MORIWAKI, K
影响因子：
56.9
作者：
Moqrich, A;Hwang, SW;Patapoutian, A
通讯作者：
Patapoutian, A
影响因子：
105.7
作者：
LILFORD, R;JONES, AM;MUELLER, R
通讯作者：
MUELLER, R