Buniello Annalisa, Montanaro Donatella, Volinia Stefano, Gasparini Paolo, Marigo Valeria
Telethon Institute of Genetics and Medicine, Via P. Castellino 111, 80131 Naples, Italy.
Genomics. 2004 May;83(5):812-20. doi: 10.1016/j.ygeno.2003.10.011.
Connexin genes are involved in several human diseases such as hearing and dermatological and peripheral nerve disorders. Connexins are protein units of gap junctions and form homotypic, heterotypic, or heteromeric complexes known as connexons. Data on the expression patterns of members of this family are partial and fragmentary. We therefore cloned all the identifiable murine homologs of human CONNEXIN genes and analyzed their expression patterns in embryonic and neonatal mouse tissues. We found that connexins are preferentially expressed in tissues derived from ectoderm and/or endoderm. Our data provide a comprehensive and detailed atlas of expression of connexin genes and in some cases suggest possible interactions of proteins that are coexpressed in the same tissue. Knowledge of temporal and spatial distribution of connexins also allows the identification of candidate genes for human diseases and provides important insight into mechanisms that lead to human disorders due to mutations in CONNEXIN genes.
连接蛋白基因与多种人类疾病有关，如听力、皮肤病和周围神经疾病。连接蛋白是间隙连接的蛋白质单位，形成同型、异型或异聚体复合物，即连接子。关于该家族成员表达模式的数据是不完整且零碎的。因此，我们克隆了人类连接蛋白基因所有可识别的小鼠同源物，并分析了它们在胚胎和新生小鼠组织中的表达模式。我们发现连接蛋白优先在外胚层和/或内胚层来源的组织中表达。我们的数据提供了连接蛋白基因表达的全面而详细的图谱，在某些情况下还表明了在同一组织中共表达的蛋白质之间可能存在的相互作用。了解连接蛋白的时空分布也有助于识别人类疾病的候选基因，并为因连接蛋白基因突变导致人类疾病的机制提供重要见解。
