Huang J D, Mermall V, Strobel M C, Russell L B, Mooseker M S, Copeland N G, Jenkins N A
ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Maryland 21702, USA.
Genetics. 1998 Apr;148(4):1963-72. doi: 10.1093/genetics/148.4.1963.
We used an RT-PCR-based sequencing approach to identify the mutations responsible for 17 viable dilute alleles, a mouse-coat-color locus encoding unconventional myosin-VA. Ten of the mutations mapped to the MyoVA tail and are reported here. These mutations represent the first extensive collection of tail mutations reported for any unconventional mammalian myosin. They identify sequences important for tail function and identify domains potentially involved in cargo binding and/or proper folding of the MyoVA tail. Our results also provide support for the notion that different myosin tail isoforms produced by alternative splicing encode important cell-type-specific functions.
我们采用基于逆转录聚合酶链反应（RT-PCR）的测序方法，来鉴定导致17个可行的稀释等位基因发生突变的原因，该基因是一个编码非常规肌球蛋白-VA的小鼠毛色位点。其中10个突变定位于肌球蛋白-VA（MyoVA）的尾部，在此予以报道。这些突变代表了首次针对任何非常规哺乳动物肌球蛋白所报道的大量尾部突变集合。它们确定了对尾部功能重要的序列，并确定了可能参与货物结合和/或MyoVA尾部正确折叠的结构域。我们的结果还支持了这样一种观点，即由可变剪接产生的不同肌球蛋白尾部异构体编码重要的细胞类型特异性功能。
