Journal of Genetics最新文献

筛选
英文 中文
The first complete mitochondrial genome of the critically endangered Malaysian giant turtle, Orlitia borneensis (Testudines: Geoemydidae). 极度濒危的马来西亚巨龟 Orlitia borneensis(龟鳖目:Geoemydidae)的首个完整线粒体基因组。
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Mohd Hairul Mohd Salleh, Yuzine Esa
{"title":"The first complete mitochondrial genome of the critically endangered Malaysian giant turtle, <i>Orlitia borneensis</i> (Testudines: Geoemydidae).","authors":"Mohd Hairul Mohd Salleh, Yuzine Esa","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We present here the complete mitochondrial sequence of the critically endangered Malaysian giant turtle, <i>Orlitia borneensis</i>. The assembled mitochondrial genome includes 13 protein-coding genes (PCGs), 22 transfer RNA (tRNA) genes, two ribosomal RNA genes (rRNAs), and one control region. This mitochondrial genome has been archived in the NCBI GenBank with accession number OQ808845. The <i>Batagur</i> control region is relatively smaller than <i>O. borneensis</i> and closer to <i>Aldabrachelys gigantea</i>, which suggests potentially that <i>O. borneensis</i> has undergone an expansion in the control region.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141237452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fly clock, my clock, and lamin B receptor. 飞钟、我的钟和片剂 B 受体。
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Durgadas P Kasbekar
{"title":"Fly clock, my clock, and lamin B receptor.","authors":"Durgadas P Kasbekar","doi":"","DOIUrl":"","url":null,"abstract":"&lt;p&gt;&lt;p&gt;In the fruit fly &lt;i&gt;Drosophila melanogaster&lt;/i&gt;, circadian rhythm was disrupted when the inner nuclear membrane protein lamin B receptor (LBR) was depleted from its clock neurons (&lt;i&gt;Proc. Natl. Acad. Sci. USA&lt;/i&gt; 118, e2019756118. 2021; https://doi.org/10. 1073/pnas.2019756118 and &lt;i&gt;Research&lt;/i&gt; 6, 0139, 2023; https://doi.org/10.34133/research.0139). Ordinarily, the clock proteinPERIOD (PER) forms foci close to the inner nuclear membrane in the circadian clock's repression phase. The size, number, and location of foci near the nuclear membrane oscillate with a 24-h rhythm. When LBR was absent the foci did not form. The PER foci bring &lt;i&gt;per&lt;/i&gt; and other clock genes close to the nuclear envelope, where their transcription is silenced. Then, in the circadian clock's activation phase, the PER protein gradually gets degraded and the foci disappear. The clock genes, including &lt;i&gt;per&lt;/i&gt;, relocate to the nucleus interior where they resume transcription. Rhythmic re-positioning of clock genes between nucleus periphery and interior, correlates with their repression and activation in the circadian cycle. Absence of LBR disrupted this rhythm. Phosphorylation of PER promoted the formation of foci whereas dephosphorylation by protein phosphatase 2A causedthem to disappear. LBR promoted focus formation by destabilizing the catalytic subunit of protein phosphatase 2A. The &lt;i&gt;lbr&lt;/i&gt; gene is no stranger to this journal. The first hint that vertebrate LBR is also a sterol biosynthesis enzyme, specifically, a sterol C14 reductase, was reported here (&lt;i&gt;J. Genet&lt;/i&gt;. 73, 33-41, 1994; https://www.ias.ac.in/article/fulltext/jgen/073/01/0033-0041). Mutations in the human &lt;i&gt;Lbr&lt;/i&gt; gene cause a range of phenotypes--from the relatively benign Pelger-Huet anomaly to the perinatally lethal Greenberg skeletal dysplasia.Drosophila, like all insects, is a sterol auxotroph. The fly orthologue of vertebrate &lt;i&gt;lbr&lt;/i&gt; genes encodes a protein (dLBR) that shares several properties with vertebrate LBR proteins, with one notable exception. While human LBR complemented theyeast Saccharomyces cerevisiae erg24 mutant which lacks sterol C14 reductase activity, dLBR did not (&lt;i&gt;J. Cell. Sci. 117&lt;/i&gt;, 2015-28, 2004; https://doi.org/10.1242/jcs.01052). Despite not possessing sterol reductase activity, dLBR retains significant sequence homology with vertebrate LBRs which have this activity. An undergraduate summer trainee in my laboratory obtained early (unpublished) evidence that dLBR lost sterol reductase activity during evolution. She transferred adult drosophila flies to vials containing a medium made of agar, dextrose, and dried and powdered mycelium of the filamentous fungus &lt;i&gt;Neurospora crassa&lt;/i&gt;. On medium made with wild-type mycelium, theflies mated, laid eggs, hatched larvae, and developed pupae which eclosed progeny adult flies. The life cycle was no different than on 'regular' fly food composed of agar, dextrose and yeast extract. However, on a medium made with my","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139377795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular data reveals a new genus of blindsnakes within Asiatyphlopinae from India. 分子数据揭示了来自印度的亚洲百步蛇科(Asiatyphlopinae)中的一个新属。
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Chinta Sidharthan, Pragyadeep Roy, K Praveen Karanth
{"title":"Molecular data reveals a new genus of blindsnakes within Asiatyphlopinae from India.","authors":"Chinta Sidharthan, Pragyadeep Roy, K Praveen Karanth","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The genus <i>Indotyphlops</i> has a widespread distribution in the Indian landmass and Southeast Asia, with 20 reported species. The current classification within the genus is based on morphology. In this study, we sampled all the reported <i>Indotyphlops</i> species from subcontinental India, to resolve relationships within this genus and to understand biogeographic patterns that resulted in the widespread distribution. We generated sequences for five nuclear markers which were used in the global typhlopoid phylogeny and built phylogenetic trees of the superfamily Typhlopoidea. We also carried out divergence time analysis and biogeographic analysis to understand the time and modes of dispersal and diversification of these species. The results show <i>Indotyphlops</i> sensu lato to be polyphyletic, with the clade consisting of <i>I. porrectus</i> and <i>I. exiguus</i> sister to a clade consisting of the southeast Asian typhlopid genera <i>Ramphotyphlops</i>, <i>Anilios</i>, <i>Malayotyphlops</i>, <i>Acutotyphlops</i>, <i>Sundatyphlops</i>, and <i>Indotyphlops</i> sensu stricto. The other clade consists of <i>I. pammeces</i> and <i>I. braminus</i> from the Indian subcontinent and <i>I. albiceps</i> from Southeast Asia. Biogeographical analysis suggests two dispersals from Asia to the Indian landmass-an earlier dispersal from Eurasia into India led to the lineage consisting of <i>I. porrectus</i> and <i>I. exiguus</i>, followed by a later dispersal that evolved into <i>I. pammeces</i> and <i>I. braminus</i>. These results necessitate a taxonomic revision. We propose the genus <i>Pseudoindotyphlops</i> gen. nov. for the clade currently consisting of the most recent common ancestor (MRCA) of <i>I. porrectus</i> and <i>I. exiguus</i>, and all descendants thereof.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139521100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The effect of modification of DNA interference on myostatin gene expression in mice. DNA 干扰修饰对小鼠肌生长蛋白基因表达的影响
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Mitra Riasi, Sina Mozaffari-Jovin, Ali Javadmanesh
{"title":"The effect of modification of DNA interference on myostatin gene expression in mice.","authors":"Mitra Riasi, Sina Mozaffari-Jovin, Ali Javadmanesh","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Myostatin is a known negative regulator of muscle tissue growth. Thus, an inhibitor of myostatin may be therapeutically useful as an anabolic agent for the muscle tissue. A promising gene-silencing approach for gene therapy is DNA interference (DNAi), a sequence that is complementary to the promoter region of a target gene. To confer resistance to nuclease digestion, several modifications such as methylphosphonate or phosphorothioate have been proposed, wherein a nonbridging oxygen atom in the oligonucleotide phosphate backbone is replaced by sulphur. The aim of the present study was to assess the effectiveness of the DNAi molecule with phosphorothioate (PS) and without phosphorothioate (WPS) modification for inhibition of myostatin gene expression in mice. Eighteen four-week-old male BALB/c mice were randomly divided into three groups: DNAi-PS (<i>n</i> = 6), DNAi-WPS (<i>n</i> = 6) and control (<i>n</i> = 6). Intraperitoneal injections of DNAi (10 mg/kg) were given once a week, and mice body weights were measured weekly and sacrificed after three weeks. The expression of myostatin was assessed using real-time quantitative polymerace chain reaction. For histological evaluation, the skeletal muscle tissue was dissected from the biceps. The results were analysed by a <i>t</i>-test. Results demonstrated that administration of DNAi intraperitoneally with modification could suppress myostatin expression by up to 70%. Leg weight and histological analysis proved that chemically modified DNAi significantly suppressed the myostatin gene in mice. Overall, the results on DNA-induced gene silencing by antisense DNA oligonucleotides in animals can provide insight into the treatment of inherited diseases.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139377796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Detection of caudal type homeobox 1 (CDX1) gene methylated DNA,as a stool-based diagnostic biomarker in colorectal cancer. 检测尾端型同源染色体 1 (CDX1) 基因甲基化 DNA,作为基于粪便的结直肠癌诊断生物标记物。
IF 2.9 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Sarina Almasi, Lida Haghnazari, Seyedeh Ozra Hosseini, Nayebali Rezvani
{"title":"Detection of caudal type homeobox 1 (<i>CDX1</i>) gene methylated DNA,as a stool-based diagnostic biomarker in colorectal cancer.","authors":"Sarina Almasi, Lida Haghnazari, Seyedeh Ozra Hosseini, Nayebali Rezvani","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is known to develop due to the accumulation of both genetic and epigenetic alterations, resulting in the conversion of intestinal epithelial cells to malignant adenocarcinoma cells. Caudal type homeobox 1 (<i>CDX1</i>) gene is a homeobox transcription factor and a selective tumour suppressor gene that is an important factor for the development of intestinal cells. This gene plays a role in the differentiation of intestinal epithelial cells, and its expression decreases in a number of cell lines derived from CRC, which suggests that a lack of <i>CDX1</i> expression is a risk factor for the development of colorectal carcinoma. Therefore, the methylated DNA amounts of <i>CDX1</i> gene in stool samples were investigated as a noninvasive method for the detection of CRC. In the present study, the methylation of <i>CDX1</i> gene promoter region was assessed in stool samples of 50 CRC patients and 50 healthy individuals by MethyLight PCR using two primers and a Taq Man probe, which was completely specifically designed for fully methylated DNA of the gene promoter region. The percentage of methylated reference (PMR) of the studied gene in all samples was calculated similarly to previous studies. Statistical analysis was performed using SPSS 16. The PMR medians were 3.25 (95% CI: 0.1-100) and 0.1 (95% CI: 0.07-1) in the stool samples of CRC patients and healthy individuals, respectively. The results showed a significant difference in <i>CDX1</i> gene PMR between stool samples of CRC patients and controls (<i>P</i>-value0.001). According to the results of this study, it can be argued that measurement of <i>CDX1</i> gene DNA in stool samples using the MethyLight PCR has acceptable sensitivity and specificity, and is adequately potential to be used as a noninvasive complementary method for the diagnosis of CRC, along with colonoscopy as the gold standard to this end. This study is the first report on <i>CDX1</i> methylation in stool samples of CRC patients. Therefore, further research should be carried out with a larger sample size to evaluate its efficacy as a diagnostic biomarker in clinical laboratories.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141759167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel intron variant in the prolactin gene associated with eggshell weight and thickness with putative alternative splicing patterns in chickens. 催乳素基因中的一个新内含子变异与鸡蛋壳重量和厚度有关,并具有假定的替代剪接模式。
IF 2.9 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Dhafer A Ali, Nihad Abdul-Lateef Ali, Thamer R S Aljubouri, Mohammed Baqur S Al-Shuhaib
{"title":"A novel intron variant in the prolactin gene associated with eggshell weight and thickness with putative alternative splicing patterns in chickens.","authors":"Dhafer A Ali, Nihad Abdul-Lateef Ali, Thamer R S Aljubouri, Mohammed Baqur S Al-Shuhaib","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Raising Iraqi indigenous chickens (IIC) is restricted by their thin and low eggshell weights. Due to the importance of the prolactin (<i>Prl</i>) gene in regulating a wide range of egg production traits, this study assessed the potential genetic polymorphisms associated with <i>Prl</i> that may influence these traits. The polymorphism was examined in three <i>Prl</i> loci of the IIC breed (<i>n</i> = 120) in comparison with the standard Hyline breed (<i>n</i> = 120). The polymorphism of both breeds was associated with eggshell weight and thickness indices for 16 weeks, starting from the 44th to the 59th week. After genotyping three loci within <i>Prl</i> by polymerase chain reaction-single-stranded conformation polymorphism (SSCP) method, only one novel SNP was identified in intron 4, namely 129G>A. The identified intron SNP exerted a significant association with both eggshell thickness and weight indices throughout the investigation period. Birds with GG genotype exhibited higher indices of eggshell thickness and weight than those with the GA and AA genotypes, respectively. The employed <i>in silico</i> tools predicted a remarkable ability for the identified SNP to alter the mRNA splicing pattern, which might be related to altered prolactin activity in birds having an alternative allele A. This study is the first to suggest the significance of this novel intron SNP in assessing eggshell traits in chickens.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142501965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Special clinical entity with 15q26 deletion: a novel case report. 15q26 缺失的特殊临床症状:一份新病例报告。
IF 2.9 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Wei-Liang Liu, Fang Li, Lu Liu, Rong Ai
{"title":"Special clinical entity with 15q26 deletion: a novel case report.","authors":"Wei-Liang Liu, Fang Li, Lu Liu, Rong Ai","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of cases with chromosome microdeletions involving 15q26 including <i>CHD2,</i>. The present study analysed the clinical data and collected venous blood samples from a pediatric patient and his healthy family members for DNA testing. The whole-exome sequencing was performed by the next-generation sequencing (NGS). Chromosomal copy-number variations were tested based on NGS. We present a review of all cases with chromosome microdeletions affecting <i>CHD2</i>. A novel de novo 5.82-Mb deletion at 15q25.3-15q26.1 including <i>CHD2</i> was identified in our patient who is an 11.6-year-old boy. We first found surprising efficacy of lamotrigine in controlling intractable drop seizures in the individual. These cases have development delay, behavioural problems, epilepsy, variable multiple anomalies, etc. Phenotypes of individuals with deletions involving 15q26 including <i>CHD2</i> are highly variable with regard to facial features and multiple developmental anomalies. We first found the special clinical entity of development delay, behavioural problems, epilepsy, variable skeletal and muscular anomalies, abnormalities of variable multiple systems and characteristic craniofacial phenotypes in patients with chromosome microdeletions involving <i>CHD2</i>. The larger deletions involving 15q26 including <i>CHD2</i> tend to cause the classical phenotype. A distinctive craniofacial appearance of the classical phenotype is midface hypoplasia and perifacial protrusion.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141237443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reflections on assortative mating, social stratification, and genetics. 对同类交配、社会分层和遗传学的思考。
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Oliver Mayo, Vidyanand Nanjundiah
{"title":"Reflections on assortative mating, social stratification, and genetics.","authors":"Oliver Mayo, Vidyanand Nanjundiah","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A recent report by G. Clark points to a sustained persistence of social status in England that extends vertically across several generations and horizontally across many levels of kinship. We seek to put his findings in historical perspective. We do so by relating them to two lines of thinking related to biological inheritance. One predated the rediscovery of Mendel's work and led to the field of quantitative genetics, which dealt on the whole with quasi-continuously varying traits. The other is based on the rediscovery itself and led to a reconciliation between quantitative genetics and discrete Mendelian elements of heredity. Both were enmeshed with the supposed need for, and societal consequences of, eugenics and assortative mating. Also on both issues, the significant ideas can be traced to R. A. Fisher, inspired in one case by F. Galton and in the other by J. A. Cobb, with strong support for Galton and Cobb coming from Karl Pearson. Clark's findings point to societal stratification, and assortative mating for wealth is a straightforward hypothesis to account for it. However, it should be noted that the findings support, but do not prove, the hypothesis.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140850908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic characterization and linkage analysis of spotted leaf 6,liguleless and lax panicle traits in mutant rice. 突变体水稻斑叶 6、无叶舌和疏松圆锥花序性状的遗传特征和连锁分析
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Mohammad Nurul Matin, Kyung Eun Lee, Sang Gu Kang
{"title":"Genetic characterization and linkage analysis of spotted leaf 6,liguleless and lax panicle traits in mutant rice.","authors":"Mohammad Nurul Matin, Kyung Eun Lee, Sang Gu Kang","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Phenotypic mutants are valuable resources for elucidating the function of genes responsible for their expression. This study examined mutant rice strains expressing three traits: spotted leaf 6 (<i>spl6</i>), lax panicle (<i>lax</i>), and liguleless (<i>lg</i>). In the mutant, the <i>spl6</i> phenotype was a genetically programmed lesion-mimicking mutation (LMM) that displayed spontaneously scattered spots across the leaf surface. In the <i>lg</i> trait, the plant lacked a collar region, and there were no auricles and ligules at the junction of the leaf blade and leaf sheath. The lax panicle trait manifested as sparely arranged spikelets resulting from the terminal spikelet with no lateral spikelets, which caused a drastic reduction of the total seed number in the mutant. All three mutant genes were genetically recessive and had nuclear gene regulation. The dihybrid segregation of the <i>lg</i> gene was classified independently according to the Mendelian 9:3:3:1 dihybrid segregation ratio in the F<sub>2</sub> generation, suggesting that the <i>lg</i> gene is not linked to the same chromosome as the <i>lax</i> and <i>spl6</i> genes. On the other hand, <i>spl6</i> and <i>lax</i> were not assorted independently, indicating that they are closely linked on chromosome 1 in rice. Additional linkage analysis from the recombination of <i>spl6</i> and <i>lax</i> genes reconfirmed that the two genes were ~9.4 cM away from each other. The individual single-gene mutant plant from one plant with a three-gene mutation (<i>spl6</i>, <i>lax</i>, and <i>lg</i>) was isolated and characterized, which will be a crucial resource for the gene cloning and molecular characterization of these genes.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of the contribution of VDR and VDBP/GC genes in the pathogenesis of celiac disease. 评估 VDR 和 VDBP/GC 基因在乳糜泻发病机制中的作用。
IF 2.9 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Pratibha Banerjee, Harinder Singh, Priyanka Tiwari, Ajit Sood, Vandana Midha, Gursewak Singh, B K Thelma, Sabyasachi Senapati
{"title":"Assessment of the contribution of <i>VDR</i> and <i>VDBP/GC</i> genes in the pathogenesis of celiac disease.","authors":"Pratibha Banerjee, Harinder Singh, Priyanka Tiwari, Ajit Sood, Vandana Midha, Gursewak Singh, B K Thelma, Sabyasachi Senapati","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Vitamin-D deficiency (VDD) is a global health concern. It is known to play a critical role in the immunomodulation, and thus, its metabolism could be investigated to unravel its contribution in common immune-mediated diseases, e.g., celiac disease (CD). Genotyping of SNPs from vitamin D receptor (<i>VDR</i>) gene, such as rs11568820 (Cdx2) and rs2228570 (Fok1) using allele specific multiplex polymerase chain reaction (ASM-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) respectively; and rs7041 and rs4588 of vitamin D binding protein (<i>VDBP/GC</i>) using PCR-RFLP were done in 969 subjects including CD cases (<i>n</i>=506) and controls (<i>n</i>=463). Genotype data for 86 CD and 712 controls for rs11568820 and rs7041 were retrieved from already published Immunochip genotype data. Serum concentration of vitamin-D and vitamin D binding protein (VDBP) were measured for 283 participants (98 CD and 185 controls). rs4588-A allele was identified as protective allele [OR=0.6(0.4-0.7), <i>P</i><0.0001]. Significantly reduced serum level of vitamin-D was observed in CD patients [median=16.25 ng/mL, IQR (8.94-23.60)] than in controls [median=19.94 ng/mL, IQR (13.91-28.46)] with <i>P</i>=0.001. Notably, rs7041-GG, rs4588-CC, and 1F (GC) haplotype of <i>VDBP/GC</i> showed significant association (<i>P</i><0.05) with reduced serum vitamin D level. We did not find any significant association with VDBP serum concentration. Significant vitamin D and VDBP level correlations were observed in controls (spearman r = 0.3, <i>P</i>=0.005). The present study highlights the significance of reduced vitamin-D serum level in CD. 1F variant of <i>VDBP</i>. and lower vitamin-D levels contribute to CD. No correlation between vitamin-D and VDBP levels suggests that vitamin-D supplementation may improve vitamin-D levels but might not affect VDBP levels in CD subjects.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142501966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信