Genetics & Heredity

Article Genetics & Heredity

Bark transcriptome analyses reveals molecular mechanisms involved in tapping panel dryness occurrence and development in rubber tree (Hevea brasiliensis)

Yifan Yue, Xuncheng Wang, Zhihui Xia, Zhi Deng, Difei Wang, Yao Li, Han Yin, Dejun Li

Summary: This study analyzed tapping panel dryness (TPD) in rubber trees, finding that key latex physiological parameters were closely related to TPD occurrence and development. By sequencing and comparing transcriptomes, 8607 genes were identified as TPD-related genes. These genes are involved in processes such as protein metabolism, cell division and differentiation, programmed cell death, stress responses, terpene biosynthesis, and metabolism. The study provides insights into the molecular mechanisms of TPD and contributes to controlling TPD in rubber trees.
Article Genetics & Heredity

Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities

Z. Spurna, P. Capkova, L. Punova, J. Duchoslavova, D. Aleksijevic, P. Venhacova, J. Srovnal, J. Stellmachova, V Curtisova, V Bitnerova, J. Petrkova, K. Kolarikova, M. Janikova, R. Kratochvilova, P. Vrtel, R. Vodicka, R. Vrtel, J. Zapletalova

Summary: This study analyzed candidate genetic variants in genes involved in bone growth in Czech children with suspected congenital skeletal abnormalities. Pathogenic variants and variants of unclear clinical significance were identified, providing insights into the genetic basis and potential therapeutic procedures for congenital skeletal abnormalities.
Article Genetics & Heredity

A transposable element-derived siRNAs involve DNA hypermethylation at the promoter of OsGSTZ4 for cadmium tolerance in rice

Xue Song Liu, He Li, Sheng Jun Feng, Zhi Min Yang

Summary: This study reveals the role of a rice Zeta family glutathione-S-transferase (OsGSTZ4) gene in Cd detoxification and its interaction with CHH hypermethylation and small interfering RNA (siRNA) in Cd response. These findings contribute to our understanding of the epigenetic mechanism of gene regulation for rice adaptation to environmental stress.
Article Genetics & Heredity

Distribution pattern of UGT1A6 and UGT2B7 gene polymorphism and its impact on the pharmacokinetics of valproic acid and carbamazepine: Prospective genetic association study conducted in Pakistani patients with epilepsy

Muhammad Saleh Faisal, Ayesha Jamil, Niaz Ali, Abdulrahman M. Alshahrani, Feras Almarshad

Summary: This study investigated the distribution of UGT1A6 and UGT2B7 gene polymorphism and their impact on the metabolism of valproic acid and carbamazepine in epilepsy patients from the Khyber Pakhtunkhwa region of Pakistan. The results showed that genetic polymorphisms of UGT1A6 significantly affected the plasma levels of valproic acid, while UGT2B7 polymorphisms did not have a significant association with carbamazepine plasma levels.
Article Genetics & Heredity

Integrative analysis of serum-derived exosomal lncRNA profiles of alveolar echinococcosis patients

Selcuk Ozdemir, Selim Comakli, Sefa Kucukler, Nurhak Aksungur, Necip Altundas, Salih Kara, Ercan Korkut, Seyma Aydin, Betul Bagci, Muhammed Hudai Culha, Gurkan Ozturk

Summary: This study identified serum-derived exosomal lncRNAs associated with alveolar echinococcosis in humans using RNA-seq. Differentially expressed mRNA transcripts and lncRNAs were found between the controls and patients. The results of this study are important for lncRNA-based biomarker studies for the early diagnosis of alveolar echinococcosis.
Article Genetics & Heredity

The role of N-acetyltransferases in cancers

Rongrong Zhu, Mengjiao Chen, Yongjia Luo, Haipeng Cheng, Zhenwang Zhao, Min Zhang

Summary: This review discusses the important role of epigenetic modification acetylation in cancer and emphasizes the key role of NATs in regulating cancer cell proliferation, metastasis, apoptosis, and other processes. Furthermore, it suggests that targeting NAT-mediated acetylation may be an attractive approach to inhibit cancer progression.
Article Genetics & Heredity

Molecular characterizations and functional roles of NANOG in early development of porcine embryos

Zhuang Chai, Jing Wu, Zicheng Qi, Yan Liu, Yanjiao Lv, Yuting Zhang, Zhuoran Yu, Chaoqian Jiang, Zhonghua Liu

Summary: This study analyzed the gene structure and sequence characteristics of porcine NANOG, and investigated its expression patterns in early embryos. The porcine NANOG gene was found to be located on chromosome 5 and exhibited two transcripts, playing a crucial role in the development of early-stage embryos.
Article Genetics & Heredity

Expression of CD44 is regulated by ELF3 in 5-FU treated colorectal cancer cells

Fangzhou Li, Fen Qiu, Xu Fan, Qingqing Yu, Shuaitong Liu, Yang Guo, Yunhe Zhu, Xueyan Xi, Boyu Du

Summary: The development of chemoresistance in colorectal cancer cells is mainly attributed to the existence of cancer stem cells. This study found that the expression of ELF3 gene is associated with the increase of CD44, and inhibiting ELF3 can decrease CD44 expression. ELF3 is significantly higher in CD44+ colorectal cancer cells.
Article Genetics & Heredity

Exosomes secreted by metastatic cancer cells promotes epithelial mesenchymal transition in small cell lung carcinoma: The key role of Src/ TGF-β1 axis

Yuzhou Shen, Jicheng TanTai

Summary: Exosome-mediated epithelial mesenchymal transition (EMT) is crucial for cancer metastasis, involving c-Src in exosome secretion and initiation of EMT. Exosomes from metastatic NSCLC cells enhance migration and invasion abilities of primary NSCLC cells, promoting EMT process through the TGF-beta 1 pathway.
Article Genetics & Heredity

Multi-Chromosomal mitochondrial genome of medicinal plant Acorus tatarinowii (Acoraceae): Firstly reported from Acorales Order

Jianfeng Tang, Zongkai Luo, Jing Zhang, Liwen Chen, Li Li

Summary: In this study, we investigated the mitochondrial genome of Acorus tatarinowii using Illumina short reads and Oxford Nanopore long reads. The mitogenome of A. tatarinowii was found to have a complex chromosomal structure, consisting of two linear chromosomes and seven circular chromosomes. It contained unique mitochondrial core genes, variable genes, tRNA genes, and rRNA genes. Codon usage analysis revealed common preferences among protein-coding genes, and repeat sequence analysis showed distinct patterns in the distribution of repetitive sequences. Additionally, homologous fragments from chloroplast and nuclear genomes were identified, and potential RNA editing sites were predicted. Our findings contribute to the understanding of the mitochondrial genome of A. tatarinowii and can serve as a reference for other species.
Article Genetics & Heredity

Effect of alpha lipoic acid on epithelial mesenchymal transition in SKOV-3 cells

Elif Onder, Nazli Cil, Muecahit Secme, Gulcin Abban Mete

Summary: The study suggests that alpha lipoic acid suppresses the metastasis of ovarian cancer cells by regulating EMT, indicating its potential as a therapeutic agent for ovarian cancer treatment.
Article Genetics & Heredity

Identification of lncRNA PCAT19 as potential novel biomarker for colorectal cancer

Atousa Masoud, Parisa Mohamadynejad

Summary: This study investigated the expression levels of two long non-coding RNAs (PCAT19 and CKMT2-AS1) in colorectal tumors and normal tissues. The results showed that one of the lncRNAs (PCAT19) may play a role in the carcinogenesis and progression of colorectal cancer and could serve as a potential therapeutic target and biomarker for the disease.
Article Genetics & Heredity

Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort

Lu Tian, Chun-Jie Chen, Yu-Ning Song, Ke Xu, Ni-En Li, Xiao-Hui Zhang, Yue Xie, Zi-Bing Jin, Yang Li

Summary: This study systematically depicted the variant profiles of the ABCA4 gene in a large Chinese cohort of patients with ABCA4-associated retinal dystrophy. The findings revealed the complexity of molecular diagnosis of Mendelian diseases and demonstrated the efficiency of whole genome sequencing (WGS) for detecting structural variants.
Article Genetics & Heredity

Integrated transcriptomic and metabolomic analyses reveal the toxic effects of dimethoate on green vegetable soya bean seedlings

Yitong Li, Yang Yu, Linqing Zhang, Yongfeng Li, Meng Gou

Summary: The study aimed to analyze the effect of dimethoate on the growth of green vegetable soya bean seedlings and conducted an integrated analysis of the transcriptome and metabolome. The findings showed that even small doses of dimethoate could have an impact on the growth of green vegetable soya bean seedlings in a short period of time.
Article Genetics & Heredity

Genetic insights into fiber quality, coat color and adaptation in Changthangi and Muzzafarnagri sheep: A comparative skin transcriptome analysis

Mahanthi Vasu, Sonika Ahlawat, Pooja Chhabra, Upasna Sharma, Reena Arora, Rekha Sharma, M. A. Mir, Manoj Kumar Singh

Summary: By comparing the skin gene expression profiles of Changthangi and Muzzafarnagri sheep, this study identified genetic differences associated with phenotypic traits and environmental adaptability, providing valuable insights into the underlying mechanisms.
Article Genetics & Heredity

OLIG2 translocates to chromosomes during mitosis via a temperature downshift: A novel neural cold response of mitotic bookmarking

Shinichi Hayashi, Ryohei Seki-Omura, Shintaro Yamada, Taito Kamata, Yuki Sato, Souichi Oe, Taro Koike, Yousuke Nakano, Hikaru Iwashita, Yukie Hirahara, Susumu Tanaka, Tsuneo Sekijima, Takeshi Ito, Yoshiki Yasukochi, Koichiro Higasa, Masaaki Kitada

Article Genetics & Heredity

Determination of T-cell clonality and expression profiles of Toll-like receptors signaling pathway genes and related miRNAs in patients with mycosis fungoides

Mucahit Secme, Yavuz Dodurga, Nese Calli Demirkan, Nida Kacar, Nur Selvi Gunel, Ibrahim Acikbas

Summary: Cutaneous T-cell lymphomas (CTCL) are a group of diseases characterized by malignant clonal CD4+ T lymphocytes in the skin. Mycosis fungoides (MF) is the most common form of CTCL, and its pathogenesis is not fully understood. This study analyzed the expression of TLR pathway genes and miRNAs in MF samples, and found potential therapeutic possibilities and the influence of the TLR signaling pathway in the molecular pathogenesis of MF.
Article Genetics & Heredity

Leptin decreases the transcription of BKCa channels and Gs to Gi protein-ratio in late pregnant rat uterus

S. Pavithra, G. Ramesh, Manjit Panigrahi, Monalisa Sahoo, C. L. Madhu, Thakur Uttam Singh, Dinesh Kumar, Subhashree Parida

Summary: Obesity can disrupt the beta-adrenergic signaling pathway in the uterus and lead to complications during pregnancy, such as preterm labor. Leptin, a hormone associated with obesity, may also contribute to uterine relaxant dysfunction. This study found that leptin affects the expression of proteins involved in the beta-adrenergic signaling pathway in rat uterus, suggesting that hyperleptinemia may play a role in inducing uterine relaxant dysfunction in obesity.
Article Genetics & Heredity

A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin

Vishal Sarsani, Sarah M. Brotman, Yin Xianyong, Lillian Fernandes Silva, Markku Laakso, Cassandra N. Spracklen

Summary: This study conducted a cross-ancestry GWAS meta-analysis to identify and characterize the association signals of adiponectin, a complex trait linked to type 2 diabetes and obesity. The analysis identified 22 loci associated with adiponectin, including 15 known and 7 previously unreported loci. The study also proposed a scoring method to prioritize target genes at associated loci and found 30 probable target genes with potential roles in regulating energy balance, inflammation, coagulation, fibrinolysis, insulin resistance, and diabetes.

HUMAN GENETICS AND GENOMICS ADVANCES (2024)

Article Genetics & Heredity

Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine research life course

Michael Bentz, Aliya Saperstein, Stephanie M. Fullerton, Janet K. Shim, Sandra Soo-Jin Lee

Summary: This article discusses the possibility of using genetic ancestry instead of race in genomic studies, as well as the issues raised by the use of social and genetic concepts of difference in precision medicine research. Drawing from qualitative data analysis, the article illustrates the importance of race and genetic ancestry concepts in research practices, and identifies conceptual slippage and conflation between race and genetic ancestry at various stages of research. The article argues that moving beyond race requires addressing the entrenchment of race in research practices and biomedical infrastructures.

HUMAN GENETICS AND GENOMICS ADVANCES (2024)