Shimoda Masafumi, Morita Sumiyo, Obata Yayoi, Sotomaru Yusuke, Kono Tomohiro, Hatada Izuho
Gene Research Center, Gunma University, 3-39-22 Showa-machi, Maebashi, Gunma, 371-8511, Japan.
Genomics. 2002 Apr;79(4):483-6. doi: 10.1006/geno.2002.6727.
We have identified a novel, maternally expressed imprinted gene encoding a C/D-box small nucleolar RNA (snoRNA) called MBII-343, which may regulate RNA editing or alternative splicing of an as yet unknown target gene. This gene is closely linked to an imprinted gene, Meg3, on mouse distal chromosome 12, which is syntenic to human chromosome 14. The paternal duplication of mouse distal chromosome 12 leads to late embryonal/neonatal lethality, growth promotion, and cardiomyopathy, whereas maternal duplication leads to late embryonal lethality and growth retardation. Human paternal uniparental disomy for chromosome 14 leads to musculoskeletal problems and mental retardation, whereas maternal uniparental disomy leads to intrauterine growth retardation, motor developmental delay, premature puberty, hypotonia, joint laxity, macrocephaly, short statue, neonatal poor sucking, skill with jigsaw puzzles, skin picking, obesity, and maturity onset diabetes of the young.
我们鉴定出一个新的、由母体表达的印记基因，它编码一种名为MBII-343的C/D盒小核仁RNA（snoRNA），该基因可能调控一个未知靶基因的RNA编辑或可变剪接。该基因与小鼠12号远端染色体上的一个印记基因Meg3紧密连锁，该区域与人类14号染色体同源。小鼠12号远端染色体的父本重复会导致胚胎后期/新生儿致死、生长加速和心肌病，而母本重复则会导致胚胎后期致死和生长迟缓。人类14号染色体的父本单亲二体会导致肌肉骨骼问题和智力发育迟缓，而母本单亲二体则会导致宫内生长迟缓、运动发育延迟、性早熟、肌张力减退、关节松弛、巨头畸形、身材矮小、新生儿吸吮无力、拼图技巧、抠皮、肥胖和青少年成年起病型糖尿病。
