Role of SATB2 5' Untranslated Region Promoter Methylation in Formation of Non-syndromic Cleft Palate Only
Yingwen Ji1, Yandan Xie2, Ming Zhang1, Jieyan Zhou1, Lihong Peng1, Yingling Zheng1, Shenyou Shu11The Cleft Lip and Palate Treatment Center, Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong China, 2Department of Cardiology, First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China,
Objectives: Accumulating evidence has implicated DNA methylation in the development of non-syndromic cleft palate only (NSCPO); however, little is known about the underlying epigenetic mechanism. This study was to elucidate the role of SATB2 5'untranslated region (UTR) promoter methylation in formation of NSCPO. Methods: DNA methylation profiling was performed on discarded human palatal tissue after repair of NSCPO (case) or maxillofacial and palate trauma (control), using an Illumina 850K-EPIC BeadChip methylation array. The SATB2 5'UTR promoter methylation level was confirmed by pyrosequencing. Results: Five CpG sites (cg14273610, cg22334352, cg25103650, cg22845542 and cg06199336) in the SATB2 5'UTR promoter was hypermethylated in cases compared with controls (P<0.05). Pyrosequencing revealed a mean methylation rate of 31.81% vs. 16.45% (p=0.0019) at the cg14273610 CpG site, 22.12% vs. 9.28% (p=0.0102) at the cg22334352 CpG site, 24.41% vs. 8.74% (p=0.0003) at the cg25103650 CpG site, 51.66% vs. 23.97%(p=0.0165) at the cg22845542 CpG site and 31.05% vs. 16.43% (p=0.0091) at the cg06199336 CpG site for cases and controls, respectively. The pyrosequencing results were consistent with those from the Illumina 850K-EPIC methylation BeadChip array. Conclusion: Our results suggested that the SATB2 may be responsible for NSCPO formation and could be a potential biomarker for NSCPO. Keywords: 5'UTR, methylation, non-syndromic cleft palate only, SATB2
Cite This Article
Ji Y, Xie Y, Zhang M, Zhou J, Peng L, Zheng Y, et al. Role of SATB2 5' Untranslated Region Promoter Methylation in Formation of Non-syndromic Cleft Palate Only. EJMO. 2023; 7(2): 165-173
Corresponding Author: Lihong Peng