by Andrew G.L. Douglas  and Diana Baralle

Received: 31 December 2020;  Published: 08 March 2021;  doi: 10.21926/obm.genet.2101125

A large proportion of rare disease patients remain undiagnosed and the vast majority of such conditions remain untreatable whether diagnosed or not. RNA splicing analysis is able to increase the diagnostic rate in rare disease by identifying cryptic splicing mutations and can help in interpreting the pathogenicity of genomic variants. Whilst targeted RT-PCR analysis remains a highly sensitive tool for assessing the splicing effects of known variants, RNA-seq can provide a more comprehensive transcriptome-wide analy [...]

by Mohamed Abutineh  , Nicholas Pizzo  , Nicholas Nifakos  , Xiao-Lu Jin  , John M Harlin  and Xing-Hai Zhang

Received: 26 October 2020;  Published: 18 February 2021;  doi: 10.21926/obm.genet.2101124

Citrus is an important group of globally produced fruit crops, holding great economic, cultural, and health value. Belonging to the Rutacaeae family, the genus Citrus includes some of the most iconic and widely appreciated variants of fruits such as the orange, lemon, lime, grapefruit, and tangerine. The spread of various diseases threatens the worldwide production of citrus fruit crops. Diseases such as Asiatic citrus canker, citrus tristeza virus, citrus leprosis, and especially citrus greening disease (also know [...]

by Masahiro Sato  , Hansol Jin  , Eri Akasaka  and Kazuchika Miyoshi

Received: 01 September 2020;  Published: 18 February 2021;  doi: 10.21926/obm.genet.2101123

The production of genetically modified (GM) pigs is considered valuable in biomedical research for the development of model animals for various diseases and pigs with resistance against viral infection. The porcine genome may be modified using several methods, such as somatic cell nuclear transfer (SCNT) using GM cells as the SCNT donor, direct injection of the transgene or the genome editing components (GEC) into fertilized eggs referred to as zygotes, the in vitro electroporation (EP) of the zygotes in the presen [...]

by OBM Genetics Editorial Office

Received: 07 January 2021;  Published: 07 January 2021;  doi: 10.21926/obm.genet.2101122

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2020. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition direct [...]

by Shuji Takabayashi  , Takuya Aoshima  , Yukari Kobayashi  , Hisayoshi Takagi  , Eri Akasaka  and Masahiro Sato

Received: 23 September 2020;  Published: 03 December 2020;  doi: 10.21926/obm.genet.2004121

Improved-Genome editing via Oviductal Nucleic Acids Delivery (i-GONAD) was developed for in situ genome editing of the preimplantation embryos present within the oviductal lumen of mice. This method is based on intra-oviductal instillation of genome editing components and subsequent in vivo electroporation (EP) in the entire oviduct. Therefore, i-GONAD differs from the previous methods (i.e., zygote microinjection and in vitro EP) in producing genome-edited mice, which relied on ex vivo handling of preimplantation [...]

by Laura Privalle  , Patricia Back  , Apurv Bhargava  , Zach Bishop  , Krystal Cisneros  , Isabelle Coats  , Ine Criel  , Lien Dhondt  , Travis Draughn  , Barb Fowler  , Brad Franklin  , Durba Ghoshal  , Jim Lor  , Jennifer Massengil  , Sofie Moens  , Tyson Mooney  , Dannyel Nelson  , Karolien Peeters  , Sashi Sathischyandra  , Caroline Staut  , Yoonhui Sung  , Ann Tuttle  , Annelies Van Hoecke  , Annelies Van Raemdonck  , Marie-Laure Verdegem  , Steven Verhaeghe  , Shane Walsh  , Ann Wierckx  , Qiang Zhao  and Rozemarijn Dreesen

Received: 11 September 2020;  Published: 02 December 2020;  doi: 10.21926/obm.genet.2004120

Demonstration of the stability of traits newly introduced into a plant genome via genetic engineering approaches comprise a significant portion of the safety assessment that these products undergo prior to receiving the requisite regulatory approvals enabling commercial authorization. Different regions of the world have different regulatory requirements and many ask similar questions from multiple and overlapping perspectives. The entire central dogma, that is stability at the DNA level, mRNA level and protein leve [...]

by Shingo Nakamura  , Naoko Ando  , Masayuki Ishihara  and Masahiro Sato

Received: 09 August 2020;  Published: 16 November 2020;  doi: 10.21926/obm.genet.2004119

The liver is a major organ with a wide range of functions, including detoxification, protein synthesis, and bile production. Liver dysfunction causes liver diseases such as hepatic cirrhosis and hepatitis. To explore the pathogenesis of these liver diseases, and the therapeutic agents against them, mice have been widely used as animal models. Genetic manipulation is easy in mice via the administration of nucleic acids (NAs) in the tail-vein. In particular, hydrodynamics-based gene delivery (HGD) is a method based o [...]

by Montse Bach-Elias  and Mariette Kokolo

Received: 25 June 2020;  Published: 16 November 2020;  doi: 10.21926/obm.genet.2004118

Non-coding RNAs (ncRNAs) have emerged as one of the most abundant regulatory molecules. However, their roles and functions are significantly different from those of proteins. Moreover, around 95% of the human genome contains non-coding DNA. ncRNAs contribute by far the majority of human transcriptional units, and the functions of the most are yet unknown. Here, we highlight that an important RNA sequence region, encompassing an exon-intron hairpin loop (also called IDX-rasISS1), of the H-Ras pre-mRNA may encode an [...]

by Mary J. Lotesto  and Stacey L. Raimondi

Received: 26 June 2020;  Published: 07 October 2020;  doi: 10.21926/obm.genet.2004117

Estrogen-based cancers affect a substantial portion of the female population in the United States. While multiple studies have examined the effect of estrogen receptor alpha (ERα/ESR1) in cancer, the effects of ERβ/ESR2 are not as well understood in tumor tissues. Furthermore, there are few studies examining the role of specific binding partners of the estrogen receptors, such as early B-cell factor 1 (EBF1). EBF1 has been shown to have a role in B cell development and differentiation and is also known to bind to a [...]

by Jiankang Jin  , Shumei Song  and Jaffer A. Ajani

Received: 30 June 2020;  Published: 16 September 2020;  doi: 10.21926/obm.genet.2003116

Gastric adenocarcinoma (GAC) is among the three most common cancers in the world. The majority of GAC patients are diagnosed in an advanced stage and have a median survival of ~9 months. There are limited effective therapeutic strategies available in the clinic and currently U.S. Food and Drug Administration (FDA) approved immune therapy is programmed death-1 (PD-1) antibodies (e.g. pembrolizumab) but only a few patients seem to benefit. Transformation to cancer occurs when multiple genes and cellular pathways are [...]