A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis.
A strategy for fine-structure functional analysis of a 6- to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis.
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通过高效诱变对小鼠 7 号染色体 6 至 11 厘摩区域进行精细结构功能分析的策略。
DOI：
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发表时间：
1990
影响因子：
11.1
通讯作者：
P. Selby
中科院分区：
文献类型：
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作者：
E. Rinchik;Donald A. Carpenter;P. Selby
通过对干细胞精原细胞进行N-乙基-N-亚硝基脲（EtNU）“饱和”诱变，可以绘制出小鼠7号染色体白化病（c）位点周围6- 11厘摩区域的精细功能图谱。在第一阶段的实验，最终将测试至少3000配子，我们筛选了972诱变配子诱导致命和可见的突变与两个交叉育种协议。在对应于细胞学可见Df（c Mod-2 sh-1）26 DVT缺失的片段范围内，恢复了13个突变。它们代表了三个表型组：产前致死性（六个突变）;体能/矮小综合征（三个突变，暂时称为适应变体）;和神经/平衡缺陷异常（四个突变）。互补分析提供了在sh-1（shaker-1）位点（神经学突变）和另一个在这里定义的fit-1（fitness-1）位点的真正重复突变的证据。此外，四个互补组被定义为诱导致死突变;另外两个致死突变是一个簇的一部分。重复突变的恢复表明，EtNU诱导的突变率，估计从特定位点的测试，应该有可能实现饱和诱变的染色体区域。该实验提供了基本的逻辑和统计信息，为通过实验诱变扩大小鼠基因组较大片段的功能图谱提供了策略基础。它还产生了额外的突变，有助于解剖7号染色体这一片段的功能和分子复杂性。
A refined functional map of a 6- to 11-centimorgan region surrounding the albino (c) locus in mouse chromosome 7 is being generated by N-ethyl-N-nitrosourea (EtNU) "saturation" mutagenesis of stem-cell spermatogonia. In the first phase of an experiment that will eventually test at least 3000 gametes, we screened 972 mutagenized gametes for the induction of both lethal and visible mutations with a two-cross breeding protocol. Thirteen mutations mapping within the limits of a segment corresponding to the cytologically visible Df(c Mod-2 sh-1)26DVT deletion were recovered. They represented three phenotypic groups: prenatal lethality (six mutations); a fitness/runting syndrome (three mutations, provisionally designated as fit variants); and a neurological/balance-defect abnormality (four mutations). Complementation analysis provided evidence for a true repeat mutation at the sh-1 (shaker-1) locus (for the neurological mutations) and another at the here defined fit-1 (fitness-1) locus. In addition, four complementation groups were defined by induced lethal mutations; the two other lethal mutations were each part of a cluster. The recovery of the repeat mutations suggests that the EtNU-induced mutation rate, estimated from specific-locus tests, should make it possible to achieve saturation mutagenesis of a chromosomal region. This experiment is providing basic logistical and statistical information on which to base strategies for expanding the functional map of larger segments of the mouse genome by experimental mutagenesis. It is also yielding additional mutations useful in dissecting the functional and molecular complexity of this segment of chromosome 7.