A novel ENU-induced mutation, peewee, causes dwarfism in the mouse.

A novel ENU-induced mutation, peewee, causes dwarfism in the mouse.
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DOI:
10.1007/s00335-009-9197-2
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发表时间:
2009-07
期刊:
影响因子:
2.5
通讯作者:
Naito, Kunihiko
Naito, Kunihiko
中科院分区:
生物学4区
文献类型:
--
作者:
Bokryeon, Lee;Kano, Kiyoshi;Young, Jay;John, Simon W. M.;Nishina, Patsy M.;Naggert, Jurgen K.;Naito, Kunihiko

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我们发现了一种新的可育,常染色体隐性突变,称为peewee,并导致矮化,在特定区域的ENU诱导的诱变。这些小鼠在同窝仔数比其他品系的小鼠小。组织学分析显示,主要器官表现正常,但在骨、肝和睾丸中观察到细胞增殖异常。单倍型分析将peewee基因定位于D5 Mit 83和D5Mit356.3之间的3.3 Mb区域。有18个基因在这个连锁区域,我们也进行了计算机定位使用PosMed的基因组计划,搜索关键字和基因之间的连接在一个时间间隔,但没有发现类似的表型描述这些基因。与正常的C57 BL/6 J小鼠相比,在peewee突变体中,只有Slc 10a 4表达较低。我们的初步突变分析检查的三个外显子,两个内含子和Slc 10a 4的非翻译区的核苷酸序列没有发现任何序列之间的差异,小老鼠和C57 BL/6 J小鼠。对小白鼠的详细分析可能会为调节身体生长的复杂机制提供新的分子见解。
We identified a novel fertile, autosomal recessive mutation, called peewee and that results in dwarfing, in a region-specific ENU-induced mutagenesis. These mice at litter size were smaller those of other strains. Histological analysis revealed that the major organs appear normal, but abnormalities in cellular proliferation were observed in bone, liver and testis. Haplotype analysis localized the peewee gene to a 3.3-Mb region between D5Mit83 and D5Mit356.3. There are 18 genes in this linkage area, and we also performed in silico mapping using the PosMed℠ program, which searches for connections among keywords and genes in an interval, but no similar phenotype descriptions were found for these genes. In the peewee mutant compared to the normal, C57BL/6J mouse, only Slc10a4 expression was lower. Our preliminary mutation analysis examining the nucleotide sequence of three exons, two introns and an untranslated region of Slc10a4 did not find any sequence difference between the peewee mouse and the C57BL/6J mouse. Detailed analysis of peewee mice might provide novel molecular insights into the complex mechanisms regulating body growth.
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