Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype.
Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype.
复制标题
发育中的小鼠耳蜗中 Col11a1 和 Col11a2 mRNA 表达：听力损失表型与突变型 XI 胶原基因型相关性的影响。
DOI：
10.1080/00016480410016162
复制
发表时间：
2004
影响因子：
1.4
通讯作者：
Griffith,AndrewJ
中科院分区：
文献类型：
--
作者：
Shpargel,KarlB;Makishima,Tomoko;Griffith,AndrewJ
纤维胶原基因COL11A1和COL11A2的突变可导致与Stickler综合征相关的感音神经性听力损失。听力损失的严重程度、发作、进展和受影响的频率与潜在的突变胶原基因相关。我们试图确定这些基因的空间或时间表达差异是否是这种相关性的基础，并确定表达这些基因的耳蜗细胞群和可能受突变影响的结构。Col11a1和Col11a2mRNA在胚胎15.5天的耳蜗导管中首次出现弥漫性表达，在出生后第1天和第5天，在耳蜗的大上皮嵴和侧壁中观察到越来越多的局灶性杂交。上皮大脊似乎是盖膜中编码Col 11 a1和Col 11 a2的mRNA的主要来源（如果不是唯一来源的话）。在出生后第13天，Col11a1和Col11a2的表达变得更加集中和共定位于内沟，Claudius'细胞和细胞的Boettcher.ConclusionsWe没有观察到的mRNA表达的空间或时间差异，可以解释的听觉表型基因型相关性。Col11a1和Col11a2在基底膜或盖膜中的表达模式提示了其重要作用。
ObjectiveMutations in the fibrillar collagen genesCOL11A1andCOL11A2can cause sensorineural hearing loss associated with Stickler syndrome. There is a correlation of hearing loss severity, onset, progression and affected frequencies with the underlying mutated collagen gene. We sought to determine whether differences in spatial or temporal expression of these genes underlie this correlation, and to identify the cochlear cell populations expressing these genes and the structures likely to be affected by mutations.Materials and MethodsWe used in situ hybridization analysis of C57BL/6J mouse temporal bones.ResultsSimilar, diffuse expression ofCol11a1andCol11a2mRNA was first observed in the cochlear duct at embryonic Day 15.5, with increasingly focal hybridization being noted at postnatal Days 1 and 5 in the greater epithelial ridge and lateral wall of the cochlea. The greater epithelial ridge appeared to be the main, if not only, source of mRNA encodingCol11a1andCol11a2in the tectorial membrane. At postnatal Day 13,Col11a1andCol11a2expression became more focal and co-localized in the inner sulcus, Claudius’ cells and cells of Boettcher.ConclusionsWe did not observe spatial or temporal differences in mRNA expression that could account for the auditory phenotype–genotype correlation. The expression patterns suggest essential roles forCol11a1andCol11a2in the basilar or tectorial membranes.