The human orthologue of murine Mpzl3 with predicted adhesive and immune functions is a potential candidate gene for immune-related hereditary hair loss
The human orthologue of murine Mpzl3 with predicted adhesive and immune functions is a potential candidate gene for immune-related hereditary hair loss
复制标题
DOI：
10.1111/j.1600-0625.2008.00797.x
复制
发表时间：
2009-03-01
影响因子：
3.6
通讯作者：
Csiszar, Katalin
中科院分区：
文献类型：
--
作者：
Racz, Peter;Mink, Matyas;Csiszar, Katalin
我们最近报道了具有严重皮肤异常和进行性周期性脱发的粗毛 (rc) 小鼠中预测的粘附蛋白 Mpzl3 (MIM 611707) 的保守免疫球蛋白 V 型结构域内的突变。在这项研究中，我们测试了这样的假设：染色体 11q23.3 上的人类直系同源物 MPZL3 是人类类似症状的候选者。预测的保守 MPZL3 蛋白在细胞外 Ig 样结构域侧翼有两个跨膜基序。 R100Q rc 突变位于 Ig 结构域识别环内，在 T 细胞受体和细胞粘附中发挥作用。 rc小鼠研究的结果、3D结构预测、与髓鞘蛋白零和EVA1的同源性、人类MPZL3基因内的多态性和突变及其细胞、组织表达和免疫染色模式的综合数据库分析表明，MPZL3的纯合或复合杂合突变可能与免疫介导的人类脱发遗传性疾病有关。
We have recently reported a mutation within the conserved immunoglobulin V-type domain of the predicted adhesion protein Mpzl3 (MIM 611707) in rough coat (rc) mice with severe skin abnormalities and progressive cyclic hair loss. In this study, we tested the hypothesis that the human orthologue MPZL3 on chromosome 11q23.3 is a candidate for similar symptoms in humans. The predicted conserved MPZL3 protein has two transmembrane motifs flanking an extracellular Ig-like domain. The R100Q rc mutation is within the Ig-domain recognition loop that has roles in T-cell receptors and cell adhesion. Results of the rc mouse study, 3D structure predictions, homology with Myelin Protein Zero and EVA1, comprehensive database analyses of polymorphisms and mutations within the human MPZL3 gene and its cell, tissue expression and immunostaining pattern indicate that homozygous or compound heterozygous mutations of MPZL3 might be involved in immune-mediated human hereditary disorders with hair loss.