Centimorgan-range one-step mapping of fertility traits using interspecific recombinant congenic mice
Centimorgan-range one-step mapping of fertility traits using interspecific recombinant congenic mice
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DOI：
10.1534/genetics.107.072157
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发表时间：
2007-07-01
期刊：
影响因子：
3.3
通讯作者：
Vaiman, Daniel
中科院分区：
文献类型：
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作者：
L'Hote, David;Serres, Catherine;Vaiman, Daniel
在哺乳动物中，雄性生育能力是由众多基因决定的数量特征。到目前为止，通过基因作图方法已经确定了几个与生育有关的广泛的染色体区域；不幸的是，潜在的基因很难识别。本研究以C57BI/6J(Mus Home Ticus)为背景，利用SEG/PAS(Mus Spretus)基因组片段含量为1~2%的53个种间重组同源基因小鼠品系(IRCS)对雄性生育参数进行了系统分析。该模型最突出的优点之一是有可能分析活体动物的稳定表型。在这里，我们论证了几个生育性状的一步精细定位的可能性。聚焦于含有独特Spretus片段的菌株，我们可以明确地定位两个睾丸和一个前列腺重量调节QTL(Ltw1、Ltw2和Lpw1)，四个控制精子核形状的QTL(SH1、Sh2、SH3和Sh4)，以及一个影响精子存活率的QTL(Dss 1)。在几个案例中，Spretus的DNA片段足够小，可以提出合适的候选者。例如，Spata1、Capza和Tuba7是非常有可能影响精子头形状的候选基因。识别哺乳动物生育途径中隐含的新基因是澄清其分子基础和提出男性不育症诊断工具的必要前提。
In mammals, male fertility is a quantitative feature determined by numerous genes. Until now, several wide chromosomal regions involved in fertility have been defined by genetic mapping approaches; unfortunately, the underlying genes are very difficult to identify. Here, 53 interspecific recombinant congenic mouse strains (IRCSs) bearing 1-2% SEG/Pas (Mus spretus) genomic fragments disseminated in a C57BI/6J (Mus domesticus) background were used to systematically analyze male fertility parameters. One of the most prominent advantages of this model is the possibility of analyzing stable phenotypes in living animals. Here, we demonstrate the possibility in one-step fine mapping for several fertility traits. Focusing on strains harboring a unique spretus fragment, we could unambiguously localize two testis and one prostate weight-regulating QTL (Ltw1, Ltw2, and Lpw1), four QTL controlling the sperm nucleus shape (Sh1, Sh2, Sh3, and Sh4), and one QTL influencing sperm survival (Dss1]). In several cases, the spretus DNA fragment was small enough to propose sound candidates. For instance, Spata1, Capza, and Tuba7 are very strong candidates for influencing the shape of the sperm head. Identifying new genes implied in mammalian fertility pathways is a necessary prerequisite for clarifying their molecular grounds and for proposing diagnostic tools for masculine infertilities.