Journal of Genetics and Genomics

Advances in understanding the roles of actin scaffolding and membrane trafficking in dendrite development

Wanting Wang, Menglong Rui

2024, 51(11): 1151-1161. doi: 10.1016/j.jgg.2024.06.010

Abstract (22) PDF (2)

Abstract:
Dendritic morphology is typically highly branched, and the branching and synaptic abundance of dendrites can enhance the receptive range of neurons and the diversity of information received, thus providing the basis for information processing in the nervous system. Once dendritic development is aber...

Gene therapy and gene editing strategies in inherited blood disorders

Xuemei Song, JinLei Liu, Tangcong Chen, Tingfeng Zheng, Xiaolong Wang, Xiang Guo

2024, 51(11): 1162-1172. doi: 10.1016/j.jgg.2024.07.004

Abstract (16) PDF (2)

Abstract:
Gene therapy has shown significant potential in treating various diseases, particularly inherited blood disorders such as hemophilia, sickle cell disease, and thalassemia. Advances in understanding the regulatory network of disease-associated genes have led to the identification of additional therap...

Combining single-cell profiling and functional analysis explores the role of pseudogenes in human early embryonic development

Mengyao Sun, Le Chang, Liu He, Li Wang, Zhengyang Jiang, Yanmin Si, Jia Yu, Yanni Ma

2024, 51(11): 1173-1186. doi: 10.1016/j.jgg.2024.07.013

Abstract (2) PDF (0)

Abstract:
More and more studies have demonstrated that pseudogenes possess coding ability, and the functions of their transcripts in the development of diseases have been partially revealed. However, the role of pseudogenes in maintenance of normal physiological states and life activities has long been neglec...

Ectopic expression of Myomaker and Myomixer in slow muscle cells induces slow muscle fusion and myofiber death

Pengzheng Yong, Zhanxiong Zhang, Shaojun Du

2024, 51(11): 1187-1203. doi: 10.1016/j.jgg.2024.08.006

Abstract (7) PDF (0)

Abstract:
Zebrafish embryos possess two major types of myofibers, the slow and fast fibers, with distinct patterns of cell fusion. The fast muscle cells can fuse, while the slow muscle cells cannot. Here, we show that myomaker is expressed in both slow and fast muscle precursors, whereas myomixer is exclusive...

Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling

Yaoting Chen, Jiang Chen, Lili Liang, Weiqian Dai, Nan Li, Shuangshuang Dong, Yongkun Zhan, Guiquan Chen, Yongguo Yu

2024, 51(11): 1204-1214. doi: 10.1016/j.jgg.2024.08.001

Abstract (2) PDF (0)

Abstract:
Netrin-G2 is a membrane-anchored protein known to play critical roles in neuronal circuit development and synaptic organization. In this study, we identify compound heterozygous mutations of c.547delC, p.(Arg183Alafs^*186) and c.605G>A, p.(Trp202X) in NTNG2 causing a syndrome exhibiting developmen...

A human-specific cytotoxic neopeptide generated by the deafness gene Cingulin

Yuhang Huang, Linqing Zhang, Yuecen Sun, Qing Liu, Jie Chen, Xiaoyun Qian, Xia Gao, Guang-Jie Zhu, Guoqiang Wan

2024, 51(11): 1215-1227. doi: 10.1016/j.jgg.2024.07.017

Abstract (6) PDF (0)

Abstract:
Accumulation of mutant proteins in cells can induce proteinopathies and cause functional damage to organs. Recently, the Cingulin (CGN) protein has been shown to maintain the morphology of cuticular plates of inner ear hair cells and a frameshift mutation in CGN causes autosomal dominant non-syndrom...

Population-scale variability of the human UDP-glycosyltransferase gene family

Daianna González-Padilla, Mahamadou D. Camara, Volker M. Lauschke, Yitian Zhou

2024, 51(11): 1228-1236. doi: 10.1016/j.jgg.2024.06.018

Abstract (6) PDF (0)

Abstract:
Human UDP-glycosyltransferases (UGTs) are responsible for the glycosylation of a wide variety of endogenous substrates and commonly prescribed drugs. Different genetic polymorphisms in UGT genes are implicated in interindividual differences in drug response and cancer risk. However, the genetic comp...

Nicotine-induced transcriptional changes and mitochondrial dysfunction in the ventral tegmental area revealed by single-nucleus transcriptomics

Lei Fan, Boxin Liu, Ru Yao, Xia Gao, Hongjuan Wang, Sanjie Jiang, Xiaomin Zheng, Huan Chen, Hongwei Hou, Yong Liu, Qingyuan Hu

2024, 51(11): 1237-1251. doi: 10.1016/j.jgg.2024.08.009

Abstract (5) PDF (0)

Abstract:
Nicotine is widely recognized as the primary contributor to tobacco dependence. Previous studies have indicated that molecular and behavioral responses to nicotine are primarily mediated by ventral tegmental area (VTA) neurons, and accumulating evidence suggests that glia play prominent roles in nic...

Epigenomic features associated with body temperature stabilize tissues during cold exposure in cold-resistant pigs

Yaping Guo, Mingyang Hu, Hao Peng, Yan Zhang, Renzhuo Kuang, Zheyu Han, Daoyuan Wang, Yinlong Liao, Ruixian Ma, Zhixiang Xu, Jiahao Sun, Yu Shen, Changzhi Zhao, Hong Ma, Di Liu, Shuhong Zhao, Yunxia Zhao

2024, 51(11): 1252-1264. doi: 10.1016/j.jgg.2024.06.017

Abstract (4) PDF (0)

Abstract:
Cold stress in low-temperature environments can trigger changes in gene expression, but epigenomics regulation of temperature stability in vital tissues, including the fat and diencephalon, is still unclear. Here, we explore the cold-induced changes in epigenomic features in the diencephalon and fat...

Insights into left-right asymmetric development of chicken ovary at the single-cell level

Tao Wang, Dong Leng, Zhongkun Cai, Binlong Chen, Jing Li, Hua Kui, Diyan Li, Zhuanjian Li

2024, 51(11): 1265-1277. doi: 10.1016/j.jgg.2024.08.002

Abstract (4) PDF (0)

Abstract:
Avian ovaries develop asymmetrically apart from prey birds, with only the left ovary growing more towards functional organ. Here, we analyze over 135,000 cells from chick's left and right ovaries at six distinct embryonic developmental stages utilizing single-cell transcriptome sequencing. We deline...

Whole-genome sequencing identifies functional genes for environmental adaptation in Chinese sheep

Yinan Niu, Yefang Li, Yuhetian Zhao, Xiaohong He, Qianjun Zhao, Yabin Pu, Yuehui Ma, Lin Jiang

2024, 51(11): 1278-1285. doi: 10.1016/j.jgg.2024.08.011

Abstract (4) PDF (0)

Abstract:
Sheep (Ovis aries), among the first domesticated species, are now globally widespread and exhibit remarkable adaptability to diverse environments. In this study, we perform whole-genome sequencing of 266 animals from 18 distinct Chinese sheep populations, each displaying unique phenotypes indicative...

Stomatal maturomics: hunting genes regulating guard cell maturation and function formation from single-cell transcriptomes

Yuming Peng, Yi Liu, Yifan Wang, Zhenxing Geng, Yue Qin, Shisong Ma

2024, 51(11): 1286-1299. doi: 10.1016/j.jgg.2024.05.004

Abstract (4) PDF (0)

Abstract:
Stomata play critical roles in gas exchange and immunity to pathogens. While many genes regulating early stomatal development up to the production of young guard cells (GCs) have been identified in Arabidopsis, much less is known about how young GCs develop into mature functional stomata. Here we pe...

NanoTrans: an integrated computational framework for comprehensive transcriptome analysis with nanopore direct RNA sequencing

Ludong Yang, Xinxin Zhang, Fan Wang, Li Zhang, Jing Li, Jia-Xing Yue

2024, 51(11): 1300-1309. doi: 10.1016/j.jgg.2024.07.007

Abstract (6) PDF (0)

Abstract:
Nanopore direct RNA sequencing (DRS) provides the direct access to native RNA strands with full-length information, shedding light on rich qualitative and quantitative properties of gene expression profiles. Here with NanoTrans, we present an integrated computational framework that comprehensively c...

Overexpression of CRYPTOCHROME 2 enhances shoot growth and wood formation in poplar under growth-restrictive short days

Hongbin Wei, Fan Sun, Jianghai Mo, Bingrui Hu, Keming Luo

2024, 51(11): 1310-1313. doi: 10.1016/j.jgg.2024.08.003

Abstract (9) PDF (0)

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TAZ inhibits SCLC metastasis through GALNT18-mediated O-glycosylation