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Fulltext Characterization of the mechanism of prolonged adaptation to osmotic stress of Jeotgalibacillus malaysiensis via genome and transcriptome sequencing analyses

Yaakop AS, Chan KG, Ee R, Lim YL, Lee SK, Manan FA, et al.

Sci Rep, 2016 09 19;6:33660.
PMID: 27641516 DOI: 10.1038/srep33660

Jeotgalibacillus malaysiensis, a moderate halophilic bacterium isolated from a pelagic area, can endure higher concentrations of sodium chloride (NaCl) than other Jeotgalibacillus type strains. In this study, we therefore chose to sequence and assemble the entire J. malaysiensis genome. This is the first report to provide a detailed analysis of the genomic features of J. malaysiensis, and to perform genetic comparisons between this microorganism and other halophiles. J. malaysiensis encodes a native megaplasmid (pJeoMA), which is greater than 600 kilobases in size, that is absent from other sequenced species of Jeotgalibacillus. Subsequently, RNA-Seq-based transcriptome analysis was utilised to examine adaptations of J. malaysiensis to osmotic stress. Specifically, the eggNOG (evolutionary genealogy of genes: Non-supervised Orthologous Groups) and KEGG (Kyoto Encyclopaedia of Genes and Genomes) databases were used to elucidate the overall effects of osmotic stress on the organism. Generally, saline stress significantly affected carbohydrate, energy, and amino acid metabolism, as well as fatty acid biosynthesis. Our findings also indicate that J. malaysiensis adopted a combination of approaches, including the uptake or synthesis of osmoprotectants, for surviving salt stress. Among these, proline synthesis appeared to be the preferred method for withstanding prolonged osmotic stress in J. malaysiensis.

Matched MeSH terms: Genome, Bacterial
Fulltext Karyotype pattern and maternal age distribution in down syndrome patients analyzed at Human Genome Centre, University Sains Malaysia, Kelantan

Siti Mariam I, Suhaida MA, Tarmizi AB, Norhasimah M, Nor Atifah MA, Kannan, T. P., et al.

Buletin Persatuan Genetik Malaysia, 2006;12(1):6-9.
MyJurnal

Down Syndrome (DS), is a complex genetic disease resulting from the presence of 3 copies of chromosome 21. It is the most common autosomal abnormality among live births and the most commonly recognized genetic cause of mental retardation. The only well established risk factor for DS is advanced maternal age. The Human Genome Center , University Sains Malaysia, Kelantan has been carrying out cytogenetic studies in DS patients. Here we, report the karyotype pattern of Down Syndrome patients in correlation with maternal age, among referral cases to our Center.

Matched MeSH terms: Genome, Human
Fulltext Review article : hepatitis A virus – a general overview

Yong HT, Son R

International Food Research Journal, 2009;16(4):455-467.
MyJurnal

Hepatitis A virus infection occurs globally and is causing a public health concern, primarily in developing countries due to its persistent circulation in the environment. The improved sanitary condition and increase in awareness of personal hygiene have led to the marked reduction of HAV prevalence in industrialized countries during childhood and to a shift of the infection towards adulthood. HAV is an environmentally stable, positive single stranded RNA virus that is primarily transmitted by the fecal-oral route, person to person contact or ingestion of contaminated food and drink. One of the main causes leading to HAV infection is epidemiologically linked to the consumption of raw or undercooked shellfish particularly oysters and clams. Due to their filter-feeding style, these shellfishes readily concentrate viruses from the surrounding water containing municipal sewage, and as a consequence pose a health threat to consumers. Therefore, development of detection techniques possessing the requisite sensitivity and specificity for the practical routine monitoring purposes is of great importance necessary for the protection of shellfish-consuming public. Nucleic acid based method such as reverse transcription PCR has emerged as the popular method of choice in view of its rapidity, accuracy and
sensitivity in contrary of the time-consuming conventional cell culture and hybridization techniques. However, detection of hepatitis A virus is firstly hampered by the non-cytophatic effect of wild type HAV strain, secondly, the low concentration of viral genome present in the environmental sample which requires effective isolation and concentration of virions and lastly the labor-extensive purification and thorough removal of the abundance of the PCR inhibitors which will unfavorably reduce the efficiency of PCR detection.

Matched MeSH terms: Genome, Viral
Down syndrome as a result of de novo robertsonian translocation involving chromosome 14 and 21: a case report

Norhasimah, M.M., Ahmad Tarmizi, A.B., Azman, B.A., Zilfalil, B.A., Ankathil, R.

Malaysian Journal of Paediatrics and Child Health, 2007;15(1):46-49.
MyJurnal

Generally, the karyotype profile of Down Syndrome has been reported to be full trisomy 21 in 92% of patients, mosaic trisomy 21 in 4% of patients and translocation involving chromosome 21 in 4% of patients in most of the population groups worldwide. But, karyotype analysis of 149 DS patients at the Human Genome Center, USM, during the past five years revealed that free trisomy accounted for 94.6%, mosaic trisomy 21 for 4.7% and translocation involving chromosome 21 in 0.7% of the Down Syndrome etiology in North East Malaysian population, indicating a low frequency of translocation DS in this region. Here, we report one case of translocation Down Syndrome encountered during karyotype analysis of 149 DS cases. Karyotype showed a robertsonian translocation where an entire extra chromosome 21 was attached to the centromere of one of the chromosome 14, resulting in a derivative chromosome 14 with attached chromosome 21. Karyotype analysis of the parents revealed a normal 46,XY pattern for father and 46,XX pattern for mother indicating that this robertsonian translocation had arisen de novo either prior to or at conception.

Matched MeSH terms: Genome, Human
Marker-assisted introgression of broad-spectrum blast resistance genes into the cultivated MR219 rice variety

Miah G, Rafii MY, Ismail MR, Puteh AB, Rahim HA, Latif MA

J Sci Food Agric, 2017 Jul;97(9):2810-2818.
PMID: 27778337 DOI: 10.1002/jsfa.8109

BACKGROUND: The rice cultivar MR219 is famous for its better yield and long and fine grain quality; however, it is susceptible to blast disease. The main objective of this study was to introgress blast resistance genes into MR219 through marker-assisted selection (MAS). The rice cultivar MR219 was used as the recurrent parent, and Pongsu Seribu 1 was used as the donor.
RESULTS: Marker-assisted foreground selection was performed using RM6836 and RM8225 to identify plants possessing blast resistance genes. Seventy microsatellite markers were used to estimate recurrent parent genome (RPG) recovery. Our analysis led to the development of 13 improved blast resistant lines with Piz, Pi2 and Pi9 broad-spectrum blast resistance genes and an MR219 genetic background. The RPG recovery of the selected improved lines was up to 97.70% with an average value of 95.98%. Selected improved lines showed a resistance response against the most virulent blast pathogen pathotype, P7.2. The selected improved lines did not express any negative effect on agronomic traits in comparison with MR219.
CONCLUSION: The research findings of this study will be a conducive approach for the application of different molecular techniques that may result in accelerating the development of new disease-resistant rice varieties, which in turn will match rising demand and food security worldwide. © 2016 Society of Chemical Industry.

Matched MeSH terms: Genome, Plant
Fulltext Little White Lies: Pericarp Color Provides Insights into the Origins and Evolution of Southeast Asian Weedy Rice

Cui Y, Song BK, Li LF, Li YL, Huang Z, Caicedo AL, et al.

G3 (Bethesda), 2016 Dec 07;6(12):4105-4114.
PMID: 27729434 DOI: 10.1534/g3.116.035881

Weedy rice is a conspecific form of cultivated rice (Oryza sativa L.) that infests rice fields and results in severe crop losses. Weed strains in different world regions appear to have originated multiple times from different domesticated and/or wild rice progenitors. In the case of Malaysian weedy rice, a multiple-origin model has been proposed based on neutral markers and analyses of domestication genes for hull color and seed shattering. Here, we examined variation in pericarp (bran) color and its molecular basis to address how this trait evolved in Malaysian weeds and its possible role in weed adaptation. Functional alleles of the Rc gene confer proanthocyanidin pigmentation of the pericarp, a trait found in most wild and weedy Oryzas and associated with seed dormancy; nonfunctional rc alleles were strongly favored during rice domestication, and most cultivated varieties have nonpigmented pericarps. Phenotypic characterizations of 52 Malaysian weeds revealed that most strains are characterized by the pigmented pericarp; however, some weeds have white pericarps, suggesting close relationships to cultivated rice. Phylogenetic analyses indicate that the Rc haplotypes present in Malaysian weeds likely have at least three distinct origins: wild O. rufipogon, white-pericarp cultivated rice, and red-pericarp cultivated rice. These diverse origins contribute to high Rc nucleotide diversity in the Malaysian weeds. Comparison of Rc allelic distributions with other rice domestication genes suggests that functional Rc alleles may confer particular fitness benefits in weedy rice populations, for example, by conferring seed dormancy. This may promote functional Rc introgression from local wild Oryza populations.

Matched MeSH terms: Genome, Plant
Fulltext Quantum changes in Helicobacter pylori gene expression accompany host-adaptation

Chua EG, Wise MJ, Khosravi Y, Seow SW, Amoyo AA, Pettersson S, et al.

DNA Res, 2017 Feb 01;24(1):37-49.
PMID: 27803027 DOI: 10.1093/dnares/dsw046

Helicobacter pylori is a highly successful gastric pathogen. High genomic plasticity allows its adaptation to changing host environments. Complete genomes of H. pylori clinical isolate UM032 and its mice-adapted serial derivatives 298 and 299, generated using both PacBio RS and Illumina MiSeq sequencing technologies, were compared to identify novel elements responsible for host-adaptation. The acquisition of a jhp0562-like allele, which encodes for a galactosyltransferase, was identified in the mice-adapted strains. Our analysis implies a new β-1,4-galactosyltransferase role for this enzyme, essential for Ley antigen expression. Intragenomic recombination between babA and babB genes was also observed. Further, we expanded on the list of candidate genes whose expression patterns have been mediated by upstream homopolymer-length alterations to facilitate host adaption. Importantly, greater than four-fold reduction of mRNA levels was demonstrated in five genes. Among the down-regulated genes, three encode for outer membrane proteins, including BabA, BabB and HopD. As expected, a substantial reduction in BabA protein abundance was detected in mice-adapted strains 298 and 299 via Western analysis. Our results suggest that the expression of Ley antigen and reduced outer membrane protein expressions may facilitate H. pylori colonisation of mouse gastric epithelium.

Matched MeSH terms: Genome, Bacterial
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries

Bagyinszky E, Youn YC, An SS, Kim S

Clin Interv Aging, 2016;11:1467-1488.
PMID: 27799753

Alzheimer's disease (AD), the most common form of senile dementia, is a genetically complex disorder. In most Asian countries, the population and the number of AD patients are growing rapidly, and the genetics of AD has been extensively studied, except in Japan. However, recent studies have been started to investigate the genes and mutations associated with AD in Korea, the People's Republic of China, and Malaysia. This review describes all of the known mutations in three early-onset AD (EOAD) causative genes (APP, PSEN1, and PSEN2) that were discovered in Asian countries. Most of the EOAD-associated mutations have been detected in PSEN1, and several novel PSEN1 mutations were recently identified in patients from various parts of the world, including Asia. Until 2014, no PSEN2 mutations were found in Asian patients; however, emerging studies from Korea and the People's Republic of China discovered probably pathogenic PSEN2 mutations. Since several novel mutations were discovered in these three genes, we also discuss the predictions on their pathogenic nature. This review briefly summarizes genome-wide association studies of late-onset AD and the genes that might be associated with AD in Asian countries. Standard sequencing is a widely used method, but it has limitations in terms of time, cost, and efficacy. Next-generation sequencing strategies could facilitate genetic analysis and association studies. Genetic testing is important for the accurate diagnosis and for understanding disease-associated pathways and might also improve disease therapy and prevention.

Matched MeSH terms: Genome-Wide Association Study
Fulltext A New Metazoan Recombination Rate Record and Consistently High Recombination Rates in the Honey Bee Genus Apis Accompanied by Frequent Inversions but Not Translocations

Rueppell O, Kuster R, Miller K, Fouks B, Rubio Correa S, Collazo J, et al.

Genome Biol Evol, 2016 12 01;8(12):3653-3660.
PMID: 28173114 DOI: 10.1093/gbe/evw269

Western honey bees (Apis mellifera) far exceed the commonly observed 1–2 meiotic recombination events per chromosome and exhibit the highest Metazoan recombination rate (20 cM/Mb) described thus far. However, the reasons for this exceptional rate of recombination are not sufficiently understood. In a comparative study, we report on the newly constructed genomic linkage maps of Apis florea and Apis dorsata that represent the two honey bee lineages without recombination rate estimates so far. Each linkage map was generated de novo, based on SNP genotypes of haploid male offspring of a single female. The A. florea map spans 4,782 cM with 1,279 markers in 16 linkage groups. The A. dorsata map is 5,762 cM long and contains 1,189 markers in 16 linkage groups. Respectively, these map sizes result in average recombination rate estimates of 20.8 and 25.1 cM/Mb. Synteny analyses indicate that frequent intra-chromosomal rearrangements but no translocations among chromosomes accompany the high rates of recombination during the independent evolution of the three major honey bee lineages. Our results imply a common cause for the evolution of very high recombination rates in Apis. Our findings also suggest that frequent homologous recombination during meiosis might increase ectopic recombination and rearrangements within but not between chromosomes. It remains to be investigated whether the resulting inversions may have been important in the evolutionary differentiation between honey bee species.

Matched MeSH terms: Genome, Insect
Fulltext Genome analysis of streptococcus gordonii sk12

Khairuldin AM, Ibrahim IK, Wakiyuddin SB, Z, Wenning, AO, Lesley, SJ, Nicholas, et al.

Ann Dent, 2014;21(2):17-26.
MyJurnal

The gram-positive, mesophilic and non-motile coccus Streptococcus gordonii is an important causative agent of infective endocarditis (IE). This pioneer species of dental plaque also causes bacteraemia in immune-supressed patients. In this study, we analysed the genome of a representative strain, Streptococcus gordonii SK12 that was originally isolated from the oral cavity. To gain a better understanding of the biology, virulence and phylogeny, of this potentially pathogenic organism, high-throughput Illumina HiSeq technology and different bioinformatics approaches were performed. Genome assembly of SK12 was performed using CLC Genomic Workbench 5.1.5 while RAST annotation revealed the key genomic features. The assembled draft genome of Streptococcus gordonii SK12 consists of 27 contigs, with a genome size of 2,145,851 bp and a G+C content of 40.63%. Phylogenetic inferences have confirmed that SK12 is closely related to the widely studied strain Streptococcus gordonii Challis. Interestingly, we predicted 118 potential virulence genes in SK12 genome which may contribute to bacterial pathogenicity in infective endocarditis. We also discovered an intact prophage which might be recently integrated into the SK12 genome. Examination of genes present in genomic islands revealed that this oral strain
might has potential to acquire new phenotypes/traits including strong defence system, bacitracin
resistance and collateral detergent sensitivity. This detailed analysis of S. gordonii SK12 further improves our understanding of the genetic make-up of S. gordonii as a whole and may help to elucidate how this species is able to transition between living as an oral commensal and potentially causing the lifethreatening condition infective endocarditis.

Matched MeSH terms: Genome Size
Fulltext The last sea nomads of the Indonesian archipelago: genomic origins and dispersal

Kusuma P, Brucato N, Cox MP, Letellier T, Manan A, Nuraini C, et al.

Eur J Hum Genet, 2017 08;25(8):1004-1010.
PMID: 28513608 DOI: 10.1038/ejhg.2017.88

The Bajo, the world's largest remaining sea nomad group, are scattered across hundreds of recently settled communities in Island Southeast Asia, along the coasts of Indonesia, Malaysia and the Philippines. With a significant role in historical trading, the Bajo lived until recently as nomads, spending their entire lives on houseboats while moving long distances to fish and trade. Along the routes they traveled, the Bajo settled and intermarried with local land-based groups, leading to 'maritime creolization', a process whereby Bajo communities retained their culture, but assimilated - and frequently married into - local groups. The origins of the Bajo have remained unclear despite several hypotheses from oral tradition, culture and language, all currently without supporting genetic evidence. Here, we report genome-wide SNP analyses on 73 Bajo individuals from three communities across Indonesia - the Derawan of Northeast Borneo, the Kotabaru of Southeast Borneo and the Kendari of Southeast Sulawesi, with 87 new samples from three populations surrounding the area where these Bajo peoples live. The Bajo likely share a common connection with Southern Sulawesi, but crucially, each Bajo community also exhibits unique genetic contributions from neighboring populations.

Matched MeSH terms: Genome, Human
The biology and the importance of Photobacterium species

Moi IM, Roslan NN, Leow ATC, Ali MSM, Rahman RNZRA, Rahimpour A, et al.

Appl Microbiol Biotechnol, 2017 Jun;101(11):4371-4385.
PMID: 28497204 DOI: 10.1007/s00253-017-8300-y

Photobacterium species are Gram-negative coccobacilli which are distributed in marine habitats worldwide. Some species are unique because of their capability to produce luminescence. Taxonomically, about 23 species and 2 subspecies are validated to date. Genomes from a few Photobacterium spp. have been sequenced and studied. They are considered a special group of bacteria because some species are capable of producing essential polyunsaturated fatty acids, antibacterial compounds, lipases, esterases and asparaginases. They are also used as biosensors in food and environmental monitoring and detectors of drown victim, as well as an important symbiont.

Matched MeSH terms: Genome, Bacterial
The cloning of Ty1-copia-like retrotransposons from 10 varieties of banana (Musa Sp.)

Teo CH, Tan SH, Othman YR, Schwarzacher T

J. Biochem. Mol. Biol. Biophys., 2002 Jun;6(3):193-201.
PMID: 12186754

Ty1-copia-like retrotransposons have been identified and investigated in several plant species. Here, the internal region of the reverse transcriptase (RT) gene of Ty1-copia-like retrotransposons was amplified by PCR from total genomic DNA of 10 varieties of banana. Two to four clones from each variety were sequenced. Extreme heterogeneity in the sequences of Ty1-copia-like retrotransposons from all the varieties was revealed following sequence analysis of the reverse transcriptase (RT) fragments. The size of the individual RT gene fragments varied between 213 and 309 bp. Southern blots of genomic DNA digested from Musa acuminata and other banana varieties probed with W8 clone from M. acuminata and A4 clone from Pisang Abu Nipah showed similar strong, multiple restriction fragments together with other faint hybridization band patterns with variable intensities indicating the presence of many copies of the Ty1-copia-like retrotransposons in the genomes. There was no correlation between retroelement sequence and the banana species (with A or B genomes) from which it arose, suggesting that the probes are not useful for tracking genomes through breeding populations.

Matched MeSH terms: Genome, Plant
Fulltext Comparative Genomics: Insights on the Pathogenicity and Lifestyle of Rhizoctonia solani

Mat Razali N, Hisham SN, Kumar IS, Shukla RN, Lee M, Abu Bakar MF, et al.

Int J Mol Sci, 2021 Feb 22;22(4).
PMID: 33671736 DOI: 10.3390/ijms22042183

Proper management of agricultural disease is important to ensure sustainable food security. Staple food crops like rice, wheat, cereals, and other cash crops hold great export value for countries. Ensuring proper supply is critical; hence any biotic or abiotic factors contributing to the shortfall in yield of these crops should be alleviated. Rhizoctonia solani is a major biotic factor that results in yield losses in many agriculturally important crops. This paper focuses on genome informatics of our Malaysian Draft R. solani AG1-IA, and the comparative genomics (inter- and intra- AG) with four AGs including China AG1-IA (AG1-IA_KB317705.1), AG1-IB, AG3, and AG8. The genomic content of repeat elements, transposable elements (TEs), syntenic genomic blocks, functions of protein-coding genes as well as core orthologous genic information that underlies R. solani's pathogenicity strategy were investigated. Our analyses show that all studied AGs have low content and varying profiles of TEs. All AGs were dominant for Class I TE, much like other basidiomycete pathogens. All AGs demonstrate dominance in Glycoside Hydrolase protein-coding gene assignments suggesting its importance in infiltration and infection of host. Our profiling also provides a basis for further investigation on lack of correlation observed between number of pathogenicity and enzyme-related genes with host range. Despite being grouped within the same AG with China AG1-IA, our Draft AG1-IA exhibits differences in terms of protein-coding gene proportions and classifications. This implies that strains from similar AG do not necessarily have to retain similar proportions and classification of TE but must have the necessary arsenal to enable successful infiltration and colonization of host. In a larger perspective, all the studied AGs essentially share core genes that are generally involved in adhesion, penetration, and host colonization. However, the different infiltration strategies will depend on the level of host resilience where this is clearly exhibited by the gene sets encoded for the process of infiltration, infection, and protection from host.

Matched MeSH terms: Genome, Fungal
Integrative analysis of chloroplast DNA methylation in a marine alga-Saccharina japonica

Teng L, Han W, Fan X, Zhang X, Xu D, Wang Y, et al.

Plant Mol Biol, 2021 Apr;105(6):611-623.
PMID: 33528753 DOI: 10.1007/s11103-020-01113-9

We applied an integrative approach using multiple methods to verify cytosine methylation in the chloroplast DNA of the multicellular brown alga Saccharina japonica. Cytosine DNA methylation is a heritable process which plays important roles in regulating development throughout the life cycle of an organism. Although methylation of nuclear DNA has been studied extensively, little is known about the state and role of DNA methylation in chloroplast genomes, especially in marine algae. Here, we have applied an integrated approach encompassing whole-genome bisulfite sequencing, methylated DNA immunoprecipitation, gene co-expression networks and photophysiological analyses to provide evidence for the role of chloroplast DNA methylation in a marine alga, the multicellular brown alga Saccharina japonica. Although the overall methylation level was relatively low in the chloroplast genome of S. japonica, gametophytes exhibited higher methylation levels than sporophytes. Gene-specific bisulfite-cloning sequencing provided additional evidence for the methylation of key photosynthetic genes. Many of them were highly expressed in sporophytes whereas genes involved in transcription, translation and biosynthesis were strongly expressed in gametophytes. Nucleus-encoded photosynthesis genes were co-expressed with their chloroplast-encoded counterparts potentially contributing to the higher photosynthetic performance in sporophytes compared to gametophytes where these co-expression networks were less pronounced. A nucleus-encoded DNA methyltransferase of the DNMT2 family is assumed to be responsible for the methylation of the chloroplast genome because it is predicted to possess a plastid transit peptide.

Matched MeSH terms: Genome, Chloroplast
Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry

Lim JL, Ng EY, Lim SY, Tan AH, Abdul-Aziz Z, Ibrahim KA, et al.

Neurol Sci, 2021 Oct;42(10):4203-4207.
PMID: 33559030 DOI: 10.1007/s10072-021-05056-x

BACKGROUND: Genome-wide association studies (GWAS) have shown that variants in the 3-methylcrotonyl-CoA carboxylase (MCCC1)/lysosome-associated membrane protein 3 (LAMP3) loci (rs10513789, rs12637471, rs12493050) reduce the risk of Parkinson's disease (PD) in Caucasians, Chinese and Ashkenazi-Jews while the rs11248060 variant in the diacylglycerol kinase theta (DGKQ) gene increases the risk of PD in Caucasian and Han Chinese cohorts. However, their roles in Malays are unknown. Therefore, this study aims to investigate the association of these variants with the risk of PD in individuals of Malay ancestry.
METHODS: A total of 1114 subjects comprising of 536 PD patients and 578 healthy controls of Malay ancestry were recruited and genotyped using Taqman® allelic discrimination assays.
RESULTS: The G allele of rs10513789 (OR = 0.83, p = 0.001) and A allele of rs12637471 (OR = 0.79, p = 0.007) in the MCCC1/LAMP3 locus were associated with a protective effect against developing PD in the Malay population. A recessive model of penetrance showed a protective effect of the GG genotype for rs10513789 and the AA genotype for rs12637471. No association with PD was found with the other MCCC1/LAMP3 rs12493050 variant or with the DGKQ (rs11248060) variant. No significant associations were found between the four variants with the age at PD diagnosis.
CONCLUSION: MCCC1/LAMP3 variants rs10513789 and rs12637471 protect against PD in the Malay population.

Matched MeSH terms: Genome-Wide Association Study
Identification of Copy Number Variation Among Nonsyndromic Cleft Lip and or Without Cleft Palate With Hypodontia: A Genome-Wide Association Study

Ghazali N, Abd Rahman N, Ahmad A, Sulong S, Kannan TP

Front Physiol, 2021;12:637306.
PMID: 33732167 DOI: 10.3389/fphys.2021.637306

Nonsyndromic cleft lip and or without cleft palate (NSCL/P) with the hypodontia is a common developmental abnormality in humans and animals. This study identified the genetic aberration involved in both NSCL/P and hypodontia pathogenesis. A cross-sectional study using genome-wide study copy number variation-targeted CytoScan 750K array carried out on salivary samples from 61 NSCL/P and 20 noncleft with and without hypodontia Malay subjects aged 7-13 years old. Copy number variations (CNVs) of SKI and fragile histidine triad (FHIT) were identified in NSCL/P and noncleft children using quantitative polymerase chain reaction (qPCR) as a validation analysis. Copy number calculated (CNC) for each gene determined with Applied Biosystems CopyCaller Software v2.0. The six significant CNVs included gains (12q14.3, 15q26.3, 1p36.32, and 1p36.33) and losses (3p14.2 and 4q13.2) in NSCL/P with hypodontia patients compared with the NSCL/P only. The genes located in these regions encoded LEMD3, IGF1R, TP73, SKI, FHIT, and UGT2β15. There were a significant gain and loss of both SKI and FHIT copy number in NSCL/P with hypodontia compared with the noncleft group (p < 0.05). The results supported that CNVs significantly furnish to the development of NSCL/P with hypodontia.

Matched MeSH terms: Genome-Wide Association Study
Fulltext Genomic insights into the conservation status of the world's last remaining Sumatran rhinoceros populations

von Seth J, Dussex N, Díez-Del-Molino D, van der Valk T, Kutschera VE, Kierczak M, et al.

Nat Commun, 2021 Apr 26;12(1):2393.
PMID: 33896938 DOI: 10.1038/s41467-021-22386-8

Small populations are often exposed to high inbreeding and mutational load that can increase the risk of extinction. The Sumatran rhinoceros was widespread in Southeast Asia, but is now restricted to small and isolated populations on Sumatra and Borneo, and most likely extinct on the Malay Peninsula. Here, we analyse 5 historical and 16 modern genomes from these populations to investigate the genomic consequences of the recent decline, such as increased inbreeding and mutational load. We find that the Malay Peninsula population experienced increased inbreeding shortly before extirpation, which possibly was accompanied by purging. The populations on Sumatra and Borneo instead show low inbreeding, but high mutational load. The currently small population sizes may thus in the near future lead to inbreeding depression. Moreover, we find little evidence for differences in local adaptation among populations, suggesting that future inbreeding depression could potentially be mitigated by assisted gene flow among populations.

Matched MeSH terms: Genome
Fulltext Whole-Genome Profiles of Malay Colorectal Cancer Patients with Intact MMR Proteins

Juhari WKW, Ahmad Amin Noordin KB, Zakaria AD, Rahman WFWA, Mokhter WMMWM, Hassan MRA, et al.

Genes (Basel), 2021 09 20;12(9).
PMID: 34573430 DOI: 10.3390/genes12091448

BACKGROUND: This study aimed to identify new genes associated with CRC in patients with normal mismatch repair (MMR) protein expression.
METHOD: Whole-genome sequencing (WGS) was performed in seven early-age-onset Malay CRC patients. Potential germline genetic variants, including single-nucleotide variations and insertions and deletions (indels), were prioritized using functional and predictive algorithms.
RESULTS: An average of 3.2 million single-nucleotide variations (SNVs) and over 800 indels were identified. Three potential candidate variants in three genes-IFNE, PTCH2 and SEMA3D-which were predicted to affect protein function, were identified in three Malay CRC patients. In addition, 19 candidate genes-ANKDD1B, CENPM, CLDN5, MAGEB16, MAP3K14, MOB3C, MS4A12, MUC19, OR2L8, OR51Q1, OR51AR1, PDE4DIP, PKD1L3, PRIM2, PRM3, SEC22B, TPTE, USP29 and ZNF117-harbouring nonsense variants were prioritised. These genes are suggested to play a role in cancer predisposition and to be associated with cancer risk. Pathway enrichment analysis indicated significant enrichment in the olfactory signalling pathway.
CONCLUSION: This study provides a new spectrum of insights into the potential genes, variants and pathways associated with CRC in Malay patients.

Matched MeSH terms: Genome, Human
Fulltext Small Interfering RNA (siRNA) and Clustered regularly interspaced short palindromic repeats (CRISPR): emerging molecular tools for genetic manipulation

Simon I. Okekpa, Rabiatul Basria S.M.N. Mydin, Munirah Mohd Nor, Emmanuel Jairaj Moses

Malaysian Journal of Medicine and Health Sciences, 2020;16(3):300-308.
MyJurnal

Gene manipulation tools have transformed biomedical research and improved the possibilities of their uses for therapeutic purposes. These tools have aided effective genomic modification in many organisms and have been successfully applied in biomedical engineering, biotechnology and biomedicine. They also shown a potential for therapeutic applications to alleviate genetic and non-genetic diseases. Small interfering RNA (siRNA) and clustered regularly inter-spaced short-palindromic repeat/associated-protein system (CRISPR/Cas) are two of the tools applied in genetic manipulation. This review aims to evaluate the molecular influence of siRNA and CRISPR/Cas as novel tools for genetic manipulations. This review discusses the molecular mechanism of siRNA and CRISPR/Cas, and the advantages and disadvantages of siRNA and CRISPR/Cas. This review also presents comparison between siRNA and CRISPR/Cas as potential tools for gene therapy. siRNA therapeutic applications occur through protein knockout with- out causing damage to cells. siRNA knocks down gene expression at the mRNA level, whereas CRISPR/Cas knocks out gene permanently at the DNA level. Inconclusion, gene manipulation tools have potential for applications that improve therapeutic strategies and plant-derived products, but ethical standards must be established before the clin- ical application of gene editing.

Matched MeSH terms: Genome

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