研究口颌裂中新生变异的基因功能和单细胞表达谱.

口颌面裂 (OFC) 是常见的先天性先天缺陷，
病因, 包括遗传变异. 在线孟德尔的继承
(我的天啊) 注释涉及OFC的几百个基因. 此外, 一些
数百种新变体 (DNV) 已经从个人身上确定
与OFC. 一些DNV与已知的OFC基因或途径有关, 但是那里
仍然有许多与OFC开发相关的DNV. 到
探索新型基因功能及其细胞表达谱, 我们
专注于未在OMIM中列出的基因中的DNV. 我们收集了 960
dnvs in 853 来自已发表研究的基因并策划了这些基因, 基于
DNV’ 有害, 进入 230 和 23 与唇裂有关的基因
或没有left裂 (Cl/p) 和cle裂只 (CPO), 分别.
进行比较, 我们策划了 178 Cl/p和 277 来自OMIM的CPO基因. 在Cl/p,
the pathways enriched in DNV and OMIM genes were significantly overlapped
(p = 0.002). Single-cell RNA sequencing (scRNA-seq) analysis of mouse lip
development revealed that both gene sets had abundant expression in the
ectoderm (DNV genes: adjusted p = 0.032, OMIM genes: adjusted p < 0.0002),
while only DNV genes were enriched in the endothelium (adjusted p = 0.032).
Although we did not achieve significant findings using CPO gene sets, which
was mainly due to the limited number of DNV genes, scRNA-seq analysis
implicated various expression patterns among DNV and OMIM genes. Our
results suggest that combinatory pathway and scRNA-seq data analyses are
helpful for contextualizing genes in OFC development.