CHARACTERISTICS OF STRIA VASCULARIS MELANOCYTES OF VIABLE-DOMINANT SPOTTING (WV/WV) MOUSE MUTANTS
CHARACTERISTICS OF STRIA VASCULARIS MELANOCYTES OF VIABLE-DOMINANT SPOTTING (WV/WV) MOUSE MUTANTS
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DOI：
10.1016/0378-5955(92)90164-i
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发表时间：
1992-12-01
期刊：
影响因子：
2.8
通讯作者：
STEEL, KP
中科院分区：
文献类型：
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作者：
CABLE, J;BARKWAY, C;STEEL, KP
W(v)突变位于原癌基因c-kit的激酶结构域，在包括神经嵴源性黑色素母细胞在内的多种细胞中表达。这种突变导致黑色素细胞的异常迁移、增殖、存活和/或分化。存活的显性斑点(W（v)/W(v)）小鼠突变体由于缺少黑素细胞而具有白色皮毛。这些动物大多数血管纹内没有黑色素细胞，也没有耳蜗电位（EP）。一部分纯合突变体部分逃脱了突变的影响：47.2%的耳廓和21%的前庭区域有色素沉着，10.8%的耳朵有EP。组织学检查的所有EP耳均有斑纹色素沉着。W(v)/W(v)小鼠的外斑与内斑无明显相关性，耳部色素沉着不对称较为常见。在这些耳蜗管的中间和/或基侧均存在浅色和深色中间细胞（源自黑素细胞），它们在使纹状体产生EP方面表现正常（尽管EP通常低于正常水平）。这表明c-kit基因产物仅在纹的发育过程中需要，而不需要成熟的黑素细胞功能，因为突变纹中存在的黑素细胞携带突变版本的c-kit基因。除了W(v)/W(v)小鼠纹中观察到较少的黑色素颗粒外，对照组和突变体的黑色素细胞外观相似。观察到W(v)/W(v)突变体中黑色素颗粒很少的黑素细胞能够支持EP的产生，以及先前观察到具有黑素细胞但没有黑色素的白化动物具有正常的EP，这表明黑素细胞而非黑色素对于正常的审判功能是必不可少的。
The W(v) mutation lies in the kinase domain of the proto-oncogene c-kit which is expressed in a variety of cells including neural crest derived melanoblasts. The mutation results in the abnormal migration, proliferation, survival and/or differentiation of melanoblasts. Viable Dominant Spotting (W(v)/W(v)) mouse mutants have a white coat due to the absence of melanocytes. The majority of these animals have no melanocytes within the stria vascularis and no endocochlear potential (EP). A proportion of homozygous mutants partially escape the effects of the mutation: 47.2% of pinnae and 21% of vestibular regions were pigmented and 10.8% of ears had an EP. All ears with an EP that were available for histology had some pigmentation of the stria. There was no obvious correlation between external and internal spotting in W(v)/W(v) mice, and asymmetrical pigmentation of the ears was common. Both light and dark intermediate cells (which are derived from melanocytes) were present in the middle and/or basal turns of these cochlear ducts and they appeared to function normally in enabling the stria to produce an EP (although the EP was usually lower than normal). This suggests that the c-kit gene product is needed only during development of the stria, and not for mature melanocyte function because the melanocytes present in the mutant strias were carrying the mutant version of the c-kit gene. Melanocytes were similar in appearance in controls and mutants, except that fewer melanin granules were observed in the strias of W(v)/W(v) mice. The observations that strial melanocytes with very few melanin granules in W(v)/W(v) mutants are able to support EP production, together with previous observations that albino animals with strial melanocytes but no melanin have a normal EP, suggest that melanocytes but not melanin are essential for normal strial function.