Innovative Beauty Science Laboratory, Kanebo Cosmetics, Inc., Kotobuki-cho, Odawara-shi, Kanagawa 250-0002, Japan.
Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5612-7. doi: 10.1073/pnas.1215432110. Epub 2013 Mar 18.
Hyaluronan (HA) has an extraordinarily high turnover in physiological tissues, and HA degradation is accelerated in inflammatory and neoplastic diseases. CD44 (a cell surface receptor) and two hyaluronidases (HYAL1 and HYAL2) are thought to be responsible for HA binding and degradation; however, the role of these molecules in HA catabolism remains controversial. Here we show that KIAA1199, a deafness gene of unknown function, plays a central role in HA binding and depolymerization that is independent of CD44 and HYAL enzymes. The specific binding of KIAA1199 to HA was demonstrated in glycosaminoglycan-binding assays. We found that knockdown of KIAA1199 abolished HA degradation by human skin fibroblasts and that transfection of KIAA1199 cDNA into cells conferred the ability to catabolize HA in an endo-β-N-acetylglucosaminidase-dependent manner via the clathrin-coated pit pathway. Enhanced degradation of HA in synovial fibroblasts from patients with osteoarthritis or rheumatoid arthritis was correlated with increased levels of KIAA1199 expression and was abrogated by knockdown of KIAA1199. The level of KIAA1199 expression in uninflamed synovium was less than in osteoarthritic or rheumatoid synovium. These data suggest that KIAA1199 is a unique hyaladherin with a key role in HA catabolism in the dermis of the skin and arthritic synovium.
透明质酸(HA)在生理组织中的周转率极高,在炎症和肿瘤性疾病中 HA 的降解会加速。CD44(细胞表面受体)和两种透明质酸酶(HYAL1 和 HYAL2)被认为负责 HA 的结合和降解;然而,这些分子在 HA 分解代谢中的作用仍存在争议。在这里,我们发现一个功能未知的耳聋基因 KIAA1199 在 HA 结合和解聚中发挥着核心作用,这一作用不依赖于 CD44 和 HYAL 酶。在糖胺聚糖结合实验中证明了 KIAA1199 与 HA 的特异性结合。我们发现 KIAA1199 的敲低会导致人皮肤成纤维细胞中 HA 降解的消除,而 KIAA1199 cDNA 的转染则赋予了细胞以依赖内-β-N-乙酰氨基葡萄糖苷酶的方式通过网格蛋白包被的小窝途径代谢 HA 的能力。骨关节炎或类风湿关节炎患者滑膜成纤维细胞中 HA 的降解增强与 KIAA1199 表达水平的增加相关,而 KIAA1199 的敲低则消除了这种增强。未发炎的滑膜中 KIAA1199 的表达水平低于骨关节炎或类风湿关节炎的滑膜。这些数据表明 KIAA1199 是一种独特的透明质酸结合蛋白,在皮肤真皮和关节炎滑膜中 HA 分解代谢中起着关键作用。