Genomics and Genetics <p style="text-align: justify;"><strong>Genomics and Genetics (G&amp;G)</strong>, formerly Thai Journal of Genetics, is an official peer-reviewed international scientific journal of <strong>The Genetics Society of Thailand (GST)</strong>. G&amp;G is an online open access journal, which publishes review articles, research articles, and short communications in all fields of Genomics and Genetics, including human genetics, medical genetics, forensic genetics, cancer genetics, pharmacogenetics, behavioral genetics, developmental genetics, animal genetics, plant genetics, agricultural genetics, microbial genetics, population genetics, evolutionary genetics, archaeogenetics, cytogenetics, biochemical genetics, molecular genetics, genomics, transcriptomics, proteomics, metabolomics, bioinformatics, and systems biology.</p> <p style="text-align: justify; background: white; margin: 0cm 0cm 7.5pt 0cm;">Manuscript in conformity with the scope of the journal and substantially contributing to the fields of genomics, genetics, and related subjects is considered for publication in G&amp;G. The manuscript submitted to G&amp;G is original, previously unpublished, research or review article containing a high quality of content that is scientifically sound. The acceptance of manuscript for publication is judged by the Editor, Editorial Board, and two or more external reviewers, based on the quality, soundness, and overall presentation of the manuscript.</p> <p style="text-align: justify; background: white; margin: 0cm 0cm 7.5pt 0cm;"><span style="background: white;">In addition, an important consideration criterion for the acceptance of manuscript for publication in G&amp;G is that the manuscript is written in a clear and grammatically correct academic English. </span>It is recommended that before submission to G&amp;G, the manuscript should be edited by a native English speaker who is familiar with scientific or academic English. The well written manuscript that has been edited by a native English speaker is accelerated to the peer-review process. The manuscript that is poorly written and <span style="background: white;">grammatically incorrect</span> is subjected to rejection without entering the peer-review process.</p> <p style="background: white; margin: 0cm 0cm 7.5pt 0cm;"><strong>Peer review process of G&amp;G is double blinded.</strong></p> <p style="background: white; margin: 0cm 0cm 7.5pt 0cm;">&nbsp;</p> <p style="background: white; margin: 0cm 0cm 7.5pt 0cm;"><strong>Publication ethics of G&amp;G <span style="background: white;">follows the principles outlined by the </span>Committee on Publication Ethics (COPE)</strong>; <a href=""><span style="color: windowtext;"></span></a>. The result of plagiarism check is needed to append with the manuscript in the submission step.</p> <p style="background: white; margin: 0cm 0cm 7.5pt 0cm;">G&amp;G is indexed by Thailand Citation Index (TCI) Group 2.</p> <p style="background: white; margin: 0cm 0cm 7.5pt 0cm;">G&amp;G follows an Open-Access policy. Articles are made available in full content at Back issues dating to 2008 are available through this site</p> <p style="background: white; margin: 0cm 0cm 7.5pt 0cm;">&nbsp;</p> <p style="background: white; margin: 0cm 0cm 7.5pt 0cm;">Editor-in-Chief: Pa-thai Yenchitsomanus</p> The Journal of Genetics Society of Thailand en-US Genomics and Genetics 2465-5198 F2 Population Phenotyping for Salt Stress Tolerant Region Identification in 'Jao Khao' Rice <p>Rice is susceptible to salt stress at seedling and reproductive stages. In order to identify the specific region in the genome conferring salt tolerance trait, F<sub>2</sub> population of the Thai landrace salt tolerant variety, 'Jao Khao' and the salt susceptible line, IR29, was generated. Based on the phenotype of 'Jao Khao' under salt stress condition, it is clustered with 'Pokkali', which is the salt tolerant standard cultivar. The phenotyping of 600 F<sub>2 </sub>individuals was performed in the hydroponic system. Two-week old seedlings were treated with stepwise salt stress using NaCl solution to reach 12 dS.m<sup>-1 </sup>for 12 days. The F<sub>2 </sub>members showed a high level of distribution in salt injury score determined according to the standard salt injury evaluation system (SES), cell membrane stability (CMS), relative water content (RWC), whole plant fresh weight, plant height and root length. SES distribution tended to show the random distribution, while CMS and RWC had bimodal distribution. The whole plant fresh weight after 12 days of salt stress displayed right skewed distribution. For the plant height and root length, both values displayed normal distribution. All of the parameters show correlation to one another. SES shows the strong negative correlation with CMS (-0.9), RWC (-0.9), and whole plant fresh weight (-0.8), but it shows less negative correlation with plant height (-0.6) and root length (-0.5).&nbsp; This F<sub>2</sub> population can be used to identify the salt tolerance regions from 'Jao Khao' via bulk-segregant analysis in the future.</p> Susinya Habila Teerapong Buaboocha Monnat Pongpanich Duangjai Suriya-Arunroj Meechai Siangliw Supachitra Chadchawan Copyright (c) 2022 2022-01-25 2022-01-25 14 2&3 47 55 Identification of a novel TSC2 pathogenic frameshift insertion causing tuberous sclerosis complex, an inherited tumor syndrome in a sporadic case <p>Tuberous Sclerosis Complex (TSC) is a hereditary syndrome of multi-organ hamartomas or benign tumorigenesis with autosomal dominant mode of transmission. The tumorigenesis in this syndrome was discovered for its etiology as perturbed function of the mechanistic or mammalian target of rapamycin (mTOR) pathway. The hyperactivated function of mTOR pathway caused by the loss of upstream negative regulators or heterotrimeric tumor suppressor complex (hamartin-tuberin-TBC1D7) was found to be the molecular pathogenesis in this syndrome. Hamartin-coding <em>TSC1</em> and tuberin-coding <em>TSC2</em> loci are therefore the candidates for identification of disease-causing variant in TSC patients. In addition to the clinical manifestations, the presence of mutation in the causative genes of TSC with confirmed pathogenicity can be considered as one criterion for TSC definite diagnosis. As the higher prevalence of mutations found in <em>TSC2</em> than the one in <em>TSC1</em>, the molecular approach in this study was designed for detecting the variant in the coding sequence of <em>TSC2</em> by using the nuclease assay to determine the existence of mismatched base pairing of the amplicon in a case of 63-year-old Thai male patient with sporadic but definite TSC. After screening the whole coding sequence of <em>TSC2</em>, the sequence analysis of the suspected amplicon by Sanger sequencing revealed a novel frameshift, single-nucleotide insertion (NM_00548.5:c.1572dupC) in exon 15, leading to premature termination of coding region (p.Asn525GlnfsTer64). This pathogenic frameshift mutation causes the extremely truncated tuberin protein (587 compared with 1,807 amino acid residues of the wild-type) with mutated C-terminal domains (residues 525-587). This finding additionally provides better understanding of the TSC genotype-phenotype correlation when compared with previous reports of TSC patient. The approach for variant screening in the whole <em>TSC2</em> coding sequence used in this study is suggested to the routine laboratory service for molecular genetic analysis of TSC patients as another appropriate method of choice in practice.</p> Punyaapa Srikirin Thawornchai Limjindaporn Chanin Limwongse Manop Pithukpakorn Ekkapong Roothumnong Yupaporn Lalerd Wanna Thongnoppakhun Chairat Turbpaiboon Copyright (c) 2021 Genomics and Genetics 2021-07-03 2021-07-03 14 2&3 37 46 Genetic alteration of clear cell renal cell carcinoma: RNA sequencing technology <p>Clear cell renal cell carcinoma (ccRCC), the most common subtype of renal cell carcinomas, is associated with a wide range of clinical outcomes. After surgery, approximately one-third of localized ccRCC patients relapse with poor clinical outcomes. Molecular profiling provides the tumor genomic landscape, revealing novel insight into mechanism and therapeutic target for cancer. A literature review challenges the current knowledge of the molecular and genetic basis of ccRCC. Next generation sequencing indicates the most frequent ccRCC driver events including Hipple-Lindau tumor suppressor gene, histone-modifying gene, alteration in the SWI/SNF complex and the PI3K/AKT/mTOR pathway or driver somatic copy number alteration. Intratumor heterogenous landscape using RNA sequencing technology can provide the foundation of clinical prognostic value and progression of the tumor. The RNA sequencing technology can provide mechanisms of biological and tumor behavior in ccRCC to discover novo diagnostic biomarkers in the early stage and novo prognostic biomarkers in the tumor stage. More research is needed on clinical outcome to prognostic value therapeutic strategies as special subtypes for clinical decision-making. The target specific molecular aberrations to therapy selection can thereby be moved towards precision medicine.</p> Thitiilat Chiraunyanan Budsaba Rerkamnuaychoke Copyright (c) 2021 Genomics and Genetics 2021-06-11 2021-06-11 14 2&3 25 36