Protocadherin X (PCDHX) and Y (PCDHY) genes;: multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains
Protocadherin X (PCDHX) and Y (PCDHY) genes;: multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains
复制标题
DOI：
10.1007/s00335-003-3028-7
复制
发表时间：
2004-01-01
期刊：
影响因子：
2.5
通讯作者：
Affara, NA
中科院分区：
文献类型：
--
作者：
Blanco-Arias, P;Sargent, CA;Affara, NA
Yp11.2/Xq21.3 X-Y同源区编码细胞表面分子原钙粘蛋白组的两个成员PCDHX和PCDHY。这两个基因主要在脑中表达，已知由至少6个外显子组成，具有98.1%的DNA同一性。PCDHX/Y的基因组结构已被重新详细分析，发现存在至少11个外显子，跨越超过700 kb。位于PCDHX/Y的5'和3'末端的这些外显子中的许多经历差异和选择性剪接。已发现7个外显子使用选择性剪接位点。这些变体中的大多数在脑内表达，尽管一些同种型表现出更普遍的分布模式。PCDHX/Y的转录似乎是由位于外显子1和外显子4.1上游的两个交替启动子驱动的。假设这些基因的5'和3'端的剪接事件彼此独立，则可能产生多达360种不同的mRNA。预测对蛋白质功能的主要影响在于翻译效率、细胞内的翻译后加工以及可能影响基因在信号传导中的任何作用的细胞质结构域的结构。
The gene-poor, hominid-specific Yp11.2/Xq21.3 X-Y homology block encodes two members of the protocadherin group of cell surface molecules, PCDHX and PCDHY These two genes, mainly expressed in brain, were known to be composed of at least six exons sharing 98.1% DNA identity. The genomic structure of PCDHX/Y has been reanalyzed in detail, uncovering the existence of at least I I more exons spanning more than 700 kb. Many of these exons located at the 5' and 3' ends of PCDHX/Y undergo differential and alternative splicing. Seven of the exons have been found to use alternative splice sites. Most of these variants are expressed within the brain, although some isoforms exhibit a more ubiquitous distribution pattern. PCDHX/Y transcription appears to be driven from two alternative promoters located usptream of exon 1 and exon 4.1. Assuming that the splicing events at the 5' and 3' ends of these genes are independent of one another, potentially up to 360 different mRNAs could be produced. The main impact on protein function is predicted to be in the efficiency of translation, post-translational processing within the cell, and structure of the cytoplasmic domain that may influence any role the genes have in signaling.