Journal of Genetics and Genomics

The Chinese garden of genetics —celebrating 40th anniversary of Genetics Society of China

Yongbiao Xue

2018, 45(1) doi: 10.1016/j.jgg.2018.01.005

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Clinical significance of germline copy number variation in susceptibility of human diseases

Liwen Hu, Xinyue Yao, Hairong Huang, Zhong Guo, Xi Cheng, Yang Xu, Yi Shen, Biao Xu, Demin Li

2018, 45(1): 3-12. doi: 10.1016/j.jgg.2018.01.001

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Germline copy number variation (CNV) is considered to be an important form of human genetic polymorphisms. Previous studies have identified amounts of CNVs in human genome by advanced technologies, such as comparative genomic hybridization, single nucleotide genotyping, and high-throughput sequencing. CNV is speculated to be derived from multiple mechanisms, such as nonallelic homologous recombination (NAHR) and nonhomologous end-joining (NHEJ). CNVs cover a much larger genome scale than single nucleotide polymorphisms (SNPs), and may alter gene expression levels by means of gene dosage, gene fusion, gene disruption, and long-range regulation effects, thus affecting individual phenotypes and playing crucial roles in human pathogenesis. The number of studies linking CNVs with common complex diseases has increased dramatically in recent years. Here, we provide a comprehensive review of the current understanding of germline CNVs, and summarize the association of germline CNVs with the susceptibility to a wide variety of human diseases that were identified in recent years. We also propose potential issues that should be addressed in future studies.

Structure and functions of the translation initiation factor eIF4E and its role in cancer development and treatment

Arianna Piserà, Adele Campo, Salvatore Campo

2018, 45(1): 13-24. doi: 10.1016/j.jgg.2018.01.003

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In eukaryotic cells, protein synthesis is a complex and multi-step process that has several mechanisms to start the translation including cap-dependent and cap-independent initiation. The translation control of eukaryotic gene expression occurs principally at the initiation step. In this context, it is critical that the eukaryotic translation initiation factor eIF4E bind to the 7-methylguanosine (m7G) cap present at the 5′-UTRs of most eukaryotic mRNAs. Combined with other initiation factors, eIF4E mediates the mRNA recruitment on ribosomes to start the translation. Moreover, the eIF4E nuclear bodies are involved in the export of specific mRNAs from the nucleus to the cytoplasm. In this review, we focus on the eIF4E structure and its physiological functions, and describe the role of eIF4E in cancer development and progression and the current therapeutic strategies to target eIF4E.

Mouse macrophage specific knockout of SIRT1 influences macrophage polarization and promotes angiotensin II-induced abdominal aortic aneurysm formation

Zhuqin Zhang, Jing Xu, Yue Liu, Tingting Wang, Jianfei Pei, Liqin Cheng, Delong Hao, Xiang Zhao, Hou-Zao Chen, De-Pei Liu

2018, 45(1): 25-32. doi: 10.1016/j.jgg.2018.01.002

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Abdominal aortic aneurysm (AAA) is a vascular degenerative disease. Macrophage polarization and the balance between classically activated macrophages (M1) and alternatively activated macrophages (M2) are crucial for AAA pathogenesis. The present study aims to investigate the roles of macrophage SIRT1 in AAA formation and macrophage polarization. We found that in mouse peritoneal macrophages, SIRT1 expression was decreased after M1 stimulation, but was enhanced after M2 stimulation. Results from mice and macrophage specific SIRT1 knockout mice with treatment of angiotensin II (Ang II) for 4 weeks showed that macrophage specific deficiency of SIRT1 increased the incidence of AAA and exacerbated the severity, including more severe aneurysm types, enlarged diameter of the aneurysm and increased degradation of elastin. In mouse aortas, SIRT1 deficiency increased the pro-inflammatory M1 molecule inducible nitric oxide synthase (iNOS), and decreased M2 molecules such as arginase 1 (Arg1) and mannose receptor (MR). Furthermore, in peritoneal macrophages, SIRT1 deficiency increased the expression of M1 inflammatory molecules, but decreased the expression of M2 molecules. Overexpression of SIRT1 had the opposite effects. Thus, macrophage specific knockout ofSIRT1 influences macrophage polarization and accelerates Ang II-induced AAA formation.

Arabidopsis ENOR3 regulates RNAi-mediated antiviral defense

Hua Gao, Mai Yang, Haitao Yang, Yue Qin, Biyun Zhu, Gang Xu, Chengyuan Xie, Dewei Wu, Xiaolin Zhang, Wanxiang Li, Jianbin Yan, Susheng Song, Tiancong Qi, Shou-Wei Ding, Daoxin Xie

2018, 45(1): 33-40. doi: 10.1016/j.jgg.2017.11.005

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Viruses can infect host plants to cause severe diseases and substantial agricultural loss, while plants have evolved RNA interference (RNAi) strategy to defend against viral infection. Despite enormous efforts, only a few host proteins in RNAi pathway were shown to mediate antiviral defense, including RNA-dependent RNA polymerase 1 (RDR1), RDR6, DICER-LIKE 2 (DCL2) and DCL4. In this study, we carried out a genetic screen for antiviral factors of RNAi pathway in Arabidopsis rdr6 background via inoculation with a 2b-deficient Cucumber Mosaic Virus (CMV-Δ2b). We identified a mutant susceptible to CMV-Δ2b, referred to as (enor) 3-1 rdr6, and found that ENOR3 encodes a functionally unknown protein with high homology to the mammalian Non Imprinted in Prader-Willi/Angelman (NIPA) magnesium transporters. ENOR3 inhibits accumulation of CMV-Δ2b and acts additively with RDR1, RDR6, DCL2 and DCL4 in antiviral defense. These results uncover that ENOR3 is a key component in antiviral RNAi pathway, and provide new insights into antiviral immunity.

Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

Sebastià Franch-Expósito, Clara Esteban-Jurado, Pilar Garre, Isabel Quintanilla, Saray Duran-Sanchon, Marcos Díaz-Gay, Laia Bonjoch, Miriam Cuatrecasas, Esther Samper, Jenifer Muñoz, Teresa Ocaña, Sabela Carballal, María López-Cerón, Antoni Castells, Maria Vila-Casadesús, Sophia Derdak, Steven Laurie, Sergi Beltran, Jaime Carvajal, Luis Bujanda, Clara Ruiz-Ponte, Jordi Camps, Meritxell Gironella, Juan José Lozano, Francesc Balaguer, Joaquín Cubiella, Trinidad Caldés, Sergi Castellví-Bel

2018, 45(1): 41-45. doi: 10.1016/j.jgg.2017.12.001

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Generation of ApoE deficient dogs via combination of embryo injection of CRISPR/Cas9 with somatic cell nuclear transfer

Chong Feng, Xiaomin Wang, Hui Shi, Quanmei Yan, Min Zheng, Jing Li, Quanjun Zhang, Yumin Qin, Yougang Zhong, Jidong Mi, Liangxue Lai

2018, 45(1): 47-50. doi: 10.1016/j.jgg.2017.11.003

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Efficient generation of pink-fruited tomatoes using CRISPR/Cas9 system

Lei Deng, Hang Wang, Chuanlong Sun, Qian Li, Hongling Jiang, Minmin Du, Chang-Bao Li, Chuanyou Li

2018, 45(1): 51-54. doi: 10.1016/j.jgg.2017.10.002

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2018 Vol. 45, No. 1