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Abnormal cardiac development has been observed in individuals with Cornelia de Lange syndrome (CdLS) due to mutations in genes encoding members of the cohesin complex. However, the precise role of cohesin in heart development remains elusive. In this study, we aimed to elucidate the indispensable role of SMC3, a component of the cohesin complex, in cardiac development and its underlying mechanism. Our investigation revealed that CdLS patients with SMC3 mutations have high rates of congenital heart disease (CHD). We utilized heart-specific Smc3-knockout (SMC3-cKO) mice, which exhibit varying degrees of outflow tract (OFT) abnormalities, to further explore this relationship. Additionally, we identified 16 rare SMC3 variants with potential pathogenicity in individuals with isolated CHD. By employing single-nucleus RNA sequencing and chromosome conformation capture high-throughput genome-wide translocation sequencing, we revealed that Smc3 deletion downregulates the expression of key genes, including Ets2, in OFT cardiac muscle cells by specifically decreasing interactions between super-enhancers (SEs) and promoters. Notably, Ets2-SE-null mice also exhibit delayed OFT development in the heart. Our research revealed a novel role for SMC3 in heart development via the regulation of SE-associated genes, suggesting its potential relevance as a CHD-related gene and providing crucial insights into the molecular basis of cardiac development.

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기사명 저자명 페이지 원문 목차
Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders Htoo A. Wai, Eliska Svobodova, Natalia Romero Herrera, Andrew G.L. Douglas, John W. Holloway, Francisco E. Baralle, Marco Baralle, Diana Baralle p. 1-10

Astrocytic 5-HT1A receptor mediates age-dependent hippocampal LTD and fear memory extinction in male mice Qian-Yun Wu, Lian-Hong Lin, Kun Lu, Si-Fu Deng, Wei-Min Li, Yuan Xu, Bin Zhang, Ji-Hong Liu p. 1-13

(The) potential role of gut microbiota-derived metabolites as regulators of metabolic syndrome-associated mitochondrial and endolysosomal dysfunction in Alzheimer’s disease Young Hyun Jung, Chang Woo Chae, Ho Jae Han p. 1-12

Comprehensive molecular characterization of TFE3-rearranged renal cell carcinoma Cho-Rong Lee, Jungyo Suh, Dongjun Jang, Bo-Yeong Jin, Jaeso Cho, Moses Lee, Hyungtai Sim, Minyong Kang, Jueun Lee, Ju Hyun Park ... [et al.] p. 1-9

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes Il Bin Kim, Myeong-Heui Kim, Saehoon Jung, Woo Kyeong Kim, Junehawk Lee, Young Seok Ju, Maree J. Webster, Sanghyeon Kim, Ja Hye Kim, Hyun Jung Kim, Junho Kim, Sangwoo Kim, Jeong Ho Lee p. 1-13

Inhibition of BCAT1-mediated cytosolic leucine metabolism regulates Th17 responses via the mTORC1-HIF1α pathway Yeon Jun Kang, Woorim Song, Su Jeong Lee, Seung Ah Choi, Sihyun Chae, Bo Ruem Yoon, Hee Young Kim, Jung Ho Lee, Chulwoo Kim, Joo-Youn Cho, Hyun Je Kim, Won-Woo Lee p. 1-15

Neutrophil extracellular traps mediate the crosstalk between plaque microenvironment and unstable carotid plaque formation Yu Cao, Minghui Chen, Xinyu Jiao, Shuijie Li, Dong Wang, Yongxuan Zhan, Jiaju Li, Zhongfei Hao, Qingbin Li, Yang Liu ... [et al.] p. 1-19

(A) neutrophil elastase-generated mature form of IL-33 is a potent regulator of endothelial cell activation and proliferative retinopathy Shivantika Bisen, Shailendra Kumar Verma, Chandra Sekhar Mukhopadhyay, Nikhlesh K. Singh p. 1-14

SMC3 contributes to heart development by regulating super-enhancer associated genes Bowen Zhang, Yongchang Zhu, Zhen Zhang, Feizhen Wu, Xiaojing Ma, Wei Sheng, Ranran Dai, Zhenglong Guo, Weili Yan, Lili Hao, Guoying Huang, Duan Ma, Bingtao Hao, Jing Ma p. 1-17

Unique expression and critical role of metallothionein 3 in the control of osteoclastogenesis and osteoporosis Shenzheng Mo, Min Kyung Kim, Ji Sun Jang, Seung Hye Lee, Seo Jin Hong, Suhan Jung, Hong-Hee Kim p. 1-16

(A) dual inhibitor of PIP5K1C and PIKfyve prevents SARS-CoV-2 entry into cells Yuri Seo, Yejin Jang, Seon-gyeong Lee, Joon Ho Rhlee, Sukyeong Kong, Thi Tuyet Hanh Vo, Myung hun Kim, Myoung Kyu Lee, Byungil Kim, Sung You Hong, Meehyein Kim, Joo-Yong Lee, Kyungjae Myung p. 1-14

(The) Foxo1-YAP-Notch1 axis reprograms STING-mediated innate immunity in NASH progression Dongwei Xu, Xiaoye Qu, Tao Yang, Mingwei Sheng, Xiyun Bian, Yongqiang Zhan, Yizhu Tian, Yuanbang Lin, Yuting Jin, Xiao Wang ... [et al.] p. 1-13

Altered lipid metabolism promoting cardiac fibrosis is mediated by CD34+ cell-derived FABP4+ fibroblasts Luping Du, Xuyang Wang, Yan Guo, Tingting Tao, Hong Wu, Xiaodong Xu, Bohuan Zhang, Ting Chen, Qingbo Xu, Xiaogang Guo p. 1-18

Clinical application of whole-genome sequencing of solid tumors for precision oncology Ryul Kim, Seokhwi Kim, Brian Baek-Lok Oh, Woo Sik Yu, Chang Woo Kim, Hoon Hur, Sang-Yong Son, Min Jae Yang, Dae Sung Cho, Taeyang Ha ... [et al.] p. 1-13

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번호 참고문헌 국회도서관 소장유무
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