LRAT 功能缺陷导致的视觉光转导障碍
中文名称
通路描述
正常功能的 lecithin retinol acyltransferase (LRAT) 介导将酰基基团转移到全反式视黄醇 (atROL) 上,形成视黄醇酯 (REs),这是视黄醇的储存形式。LRAT 缺陷导致莱伯先天性暗视症 14 型 (LCA14, MIM:613341),这是一种常染色体隐性遗传的幼年起病的视网膜退行性疾病,影响视杆和视锥细胞。莱伯先天性暗视症 (LCA) 是一组早期起病的视网膜退行性疾病,以视力丧失、眼球震颤和严重的视网膜功能障碍为特征 (Chung & Traboulsi 2009)。
英文描述
PRC2 methylates histones and DNA Polycomb group proteins are responsible for the heritable repression of genes during development (Lee et al. 2006, Ku et al. 2008, reviewed in Simon and Kingston 2009, Margueron and Reinberg 2011, Di Croce and Helin 2013). Two major families of Polycomb complexes exist: Polycomb Repressive Complex 1 (PRC1) and Polycomb Repressive Complex 2 (PRC2). PRC1 and PRC2 each appear to comprise sets of distinct complexes that contain common core subunits and distinct accessory subunits (reviewed in Nayak et al. 2011). PRC2, through its component EZH2 or, in some complexes, EZH1 produces the initial molecular mark of repression, the trimethylation of lysine-27 of histone H3 (H3K27me3). How PRC2 is initially recruited to a locus remains unknown, however cytosine-guanine (CpG) motifs and transcripts have been suggested. Different mechanisms may be used at different loci. The trimethylated H3K27 produced by PRC2 is bound by the Polycomb subunit of PRC1. PRC1 ubiquitinates histone H2A and maintains repression.
所含基因
44 个基因
AEBP2
DNMT1
DNMT3A
DNMT3B
EED
EPOP
EZH1
EZH2
EZHIP
H2AFB1
H2AFJ
H2AFV
H2AFX
H2BFS
H3F3A
HIST1H2AB
HIST1H2AC
HIST1H2AD
HIST1H2AJ
HIST1H2BA
HIST1H2BB
HIST1H2BC
HIST1H2BD
HIST1H2BH
HIST1H2BJ
HIST1H2BK
HIST1H2BL
HIST1H2BM
HIST1H2BN
HIST1H2BO
HIST1H3A
HIST1H4
HIST2H2AA3
HIST2H2AC
HIST2H2BE
HIST2H3A
HIST3H2BB
JARID2
MTF2
PHF1
PHF19
RBBP4
RBBP7
SUZ12