Department of Anatomy and Embryology, Laboratory Animal Resource Center in Transborder Medical Research Center, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan.
Exp Anim. 2021 Aug 6;70(3):264-271. doi: 10.1538/expanim.21-0027. Epub 2021 Mar 23.
The large MAF transcription factor group is a group of transcription factors with an acidic region, a basic region, and a leucine zipper region. Four types of MAF, MAFA, MAFB, c-MAF, and NRL, have been identified in humans and mice. In order to elucidate the functions of the large MAF transcription factor group in vivo, our research group created genetically modified MAFA-, MAFB-, and c-MAF-deficient mice and analyzed their phenotypes. MAFA is expressed in pancreatic β cells and is essential for insulin transcription and secretion. MAFB is essential for the development of pancreatic endocrine cells, formation of inner ears, podocyte function in the kidneys, and functional differentiation of macrophages. c-MAF is essential for lens formation and osteoblast differentiation. Furthermore, a single-base mutation in genes encoding the large MAF transcription factor group causes congenital renal disease, eye disease, bone disease, diabetes, and tumors in humans. This review describes the functions of large MAF transcription factors in vivo and their relationships with human diseases.
大型 maf 转录因子组是一组具有酸性区、碱性区和亮氨酸拉链区的转录因子。在人类和小鼠中已鉴定出四种 maf，即 mafA、mafB、c-maf 和 NRL。为了阐明大型 maf 转录因子组在体内的功能，我们的研究小组创建了基因修饰的 mafA、mafB 和 c-maf 缺陷型小鼠，并分析了它们的表型。Mafa 表达于胰腺β细胞，对于胰岛素转录和分泌是必需的。MafB 对于胰腺内分泌细胞的发育、内耳的形成、肾脏中的足细胞功能以及巨噬细胞的功能分化是必需的。C-Maf 对于晶状体形成和成骨细胞分化是必需的。此外，编码大型 maf 转录因子组的基因中的单个碱基突变导致人类先天性肾病、眼病、骨病、糖尿病和肿瘤。本文综述了大型 maf 转录因子在体内的功能及其与人类疾病的关系。
