Journal of Genetics最新文献_第7页

Expanding the genetic and phenotypic spectrum of Baker-Gordon syndrome: a new de novo SYT1 variant. 扩展贝克-戈登综合征的遗传和表型谱：一种新的SYT1基因变异。

IF 2.9 4区生物学

Journal of Genetics Pub Date : 2024-01-01

Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Pilar Quijada-Fraile, Francisco Martínez-Azorín

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":"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 CHD2,. 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 CHD2. A novel de novo 5.82-Mb deletion at 15q25.3-15q26.1 including CHD2 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 CHD2 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 CHD2. The larger deletions involving 15q26 including CHD2 tend to cause the classical phenotype. A distinctive craniofacial appearance of the classical phenotype is midface hypoplasia and perifacial protrusion.","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

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":"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 (spl6), lax panicle (lax), and liguleless (lg). In the mutant, the spl6 phenotype was a genetically programmed lesion-mimicking mutation (LMM) that displayed spontaneously scattered spots across the leaf surface. In the lg 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 lg gene was classified independently according to the Mendelian 9:3:3:1 dihybrid segregation ratio in the F2 generation, suggesting that the lg gene is not linked to the same chromosome as the lax and spl6 genes. On the other hand, spl6 and lax were not assorted independently, indicating that they are closely linked on chromosome 1 in rice. Additional linkage analysis from the recombination of spl6 and lax 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 (spl6, lax, and lg) was isolated and characterized, which will be a crucial resource for the gene cloning and molecular characterization of these genes.","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 VDR and VDBP/GC 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":"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 (VDR) 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 (VDBP/GC) using PCR-RFLP were done in 969 subjects including CD cases (n=506) and controls (n=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), P<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 P=0.001. Notably, rs7041-GG, rs4588-CC, and 1F (GC) haplotype of VDBP/GC showed significant association (P<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, P=0.005). The present study highlights the significance of reduced vitamin-D serum level in CD. 1F variant of VDBP. 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.","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

Mitogenome features and phylogenetic analysis of red algae, Grateloupia cornea (Rhodophyta, Halymeniales). 红藻角叉菜（红藻门，Halymeniales）的有丝分裂基因组特征和系统发育分析。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2024-01-01

Maheshkumar Prakash Patil, Young-Ryun Kim, Shinya Nakashita, Jong-Oh Kim, Kyunghoi Kim

{"title":"Mitogenome features and phylogenetic analysis of red algae, Grateloupia cornea (Rhodophyta, Halymeniales).","authors":"Maheshkumar Prakash Patil, Young-Ryun Kim, Shinya Nakashita, Jong-Oh Kim, Kyunghoi Kim","doi":"","DOIUrl":"","url":null,"abstract":"The mitogenome is an important tool for taxonomic and evolutionary investigation. Here, a few complete mitogenomes of red algae have been reported. We have reported the complete mitogenome sequences of Grateloupia cornea Okamura, 1913 (Rhodophyta, Halymeniales). The genome is 30,595 bp in circumference, and has a strongly biased [AT] = 66.9%. Like most other Grateloupia species, it has a group II intron in the cox1 gene. Maximum likelihood and maximum parsimony analyses showed that G. cornea is more closely related to G. asiatica. This shows that the group II intron in the cox1 ORF present in most species of Grateloupia was present in their common ancestor, and uniquely lost in G. asiatica. The seven Grateloupia species with known mitogenome sequences remain monophyletic, with the genus Polyopes as sister taxon. The complete mitochondrial genome data will be valuable for future research on comparative mitochondrial genome analysis, an extensive understanding of gene content and organization, evolution of the cox1 intron in Rhodophyta as well as phylogenetic analysis.","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":"141237472","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 global evaluation of mitochondrial DNA diversity and distribution of dromedary, Camelus dromedarius from north-central Saudi Arabia. 沙特阿拉伯中北部单峰驼线粒体 DNA 多样性和分布的全球评估。

IF 2.9 4区生物学

Journal of Genetics Pub Date : 2024-01-01

Fevzi Bardakci, Abdelmuhsin Abdelgadir, Md Jahoor Alam, Haci Halil Biyik, Arif Jamal Siddiqui, Riadh Badraoui, Mohd Adnan, Mousa Alreshidi, Atakan Koc, Mejdi Snoussi

{"title":"A global evaluation of mitochondrial DNA diversity and distribution of dromedary, Camelus dromedarius from north-central Saudi Arabia.","authors":"Fevzi Bardakci, Abdelmuhsin Abdelgadir, Md Jahoor Alam, Haci Halil Biyik, Arif Jamal Siddiqui, Riadh Badraoui, Mohd Adnan, Mousa Alreshidi, Atakan Koc, Mejdi Snoussi","doi":"","DOIUrl":"","url":null,"abstract":"Knowledge of genetic variability within and among types and breeds of dromedary (Camelus dromedarius L.) can be a valuable asset in selective breeding of desirable characteristics and will shed light on their origin, dynamics of domestication, and dispersion. Variability in an 809 bp segment of the mtDNA genome was measured within and among dromedaries from eight indigenous and one exogenous breed from Ha'il in north-central Saudi Arabia. Sixteen mtDNA haplotypes were identified among 47 camels. Haplotypic diversity among breeds is high (Hd = 0.817); most of the AMOVA variance (55.05%) occurs within breeds. Phylogenetic comparison of these haplotypes with those obtained across their geographic range showed that most haplotypes were placed within the same cluster with ancient wild dromedaries and the two newly identified haplotypes in this study. The most prevalent haplotypes found in dromedaries from this area appear to be ancestral to most other dromedaries and differ from each other by only one SNP. These results support the hypothesis that the Arabian Peninsula is a hub of diversification for dromedaries.","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":"141759165","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

Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants. 家族性癌症病例中的种系遗传变异：RAD51D和其他四种共分离变异。

IF 2.9 4区生物学

Journal of Genetics Pub Date : 2024-01-01

Shristi Biswas, Swati Manekar, Shehnaz Kantharia, Sonal Bakshi

引用次数: 0

Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease. HSD11B1 和 ACE 基因的多态性与沙眼疾病的关系。

IF 2.9 4区生物学

Journal of Genetics Pub Date : 2024-01-01

Laura L Valdez-Velazquez, Héctor Ochoa-Díaz-López, Iván Delgado-Enciso, Héctor Rangel-Villalobos, Irám P Rodríguez-Sánchez, Rosario García-Miranda, Doireyner Daniel Velázquez-Ramírez, Nancy A Reyes-Méndez, Carlos Eduardo Barajas-Saucedo, Margarita L Martínez-Fierro

{"title":"Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease.","authors":"Laura L Valdez-Velazquez, Héctor Ochoa-Díaz-López, Iván Delgado-Enciso, Héctor Rangel-Villalobos, Irám P Rodríguez-Sánchez, Rosario García-Miranda, Doireyner Daniel Velázquez-Ramírez, Nancy A Reyes-Méndez, Carlos Eduardo Barajas-Saucedo, Margarita L Martínez-Fierro","doi":"","DOIUrl":"","url":null,"abstract":"Trachoma, caused by Chlamydia trachomatis, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible blindness. This study aimed to evaluate the genetic risk of developing late-stage trachoma in Mayan ethnic groups. In a case-control study (n = 51 vs n = 102, respectively), the following single-nucleotide polymorphisms (SNPs) in genes related to inflammation were analysed: HSD11B1 (rs11807619), HSD11B1 (rs932335), ABCG2 (rs2231142), SLCO1B1 (rs4149056), IL-10 (rs1800890), TNF (rs1800629), MMP2 (rs243865) and ACE. Three SNPs were associated with late-stage trachoma risk: (i) the T allele of rs11807619, (ii) the C allele of rs932335, which are linked to the HSD11B1 gene (OR = 22.5-27.3), particularly in men when adjusts for gender (OR = 16-16.7); and (iii) D allele of rs4340 in the ACE gene (OR = 5.2-5.3). In fact, significant linkage disequilibrium demonstrated association between ACE gene and HSD11B1 SNPs (r = 0.17-0.179; P = 0.0048-0.0073). Two SNPs HSD11B1 gene (P = 0.013 vs 0.0039) and HSD11B1-ACE haplotypes showed association with late-stage trachoma in Mayan ethnic groups.","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":"141759166","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

Genomewide architecture of adaptation in experimentally evolved Drosophila characterized by widespread pleiotropy. 实验进化果蝇适应性的全基因组结构具有广泛的多义性。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2024-01-01

Zachary S Greenspan, Thomas T Barter, Mark A Phillips, José M Ranz, Michael R Rose, Laurence D Mueller

{"title":"Genomewide architecture of adaptation in experimentally evolved Drosophila characterized by widespread pleiotropy.","authors":"Zachary S Greenspan, Thomas T Barter, Mark A Phillips, José M Ranz, Michael R Rose, Laurence D Mueller","doi":"","DOIUrl":"","url":null,"abstract":"Dissecting the molecular basis of adaptation remains elusive despite our ability to sequence genomes and transcriptomes. At present, most genomic research on selection focusses on signatures of selective sweeps in patterns of heterozygosity. Other research has studied changes in patterns of gene expression in evolving populations but has not usually identified the genetic changes causing these shifts in expression. Here we attempt to go beyond these approaches by using machine learning tools to explore interactions between the genome, transcriptome, and life-history phenotypes in two groups of 10 experimentally evolved Drosophila populations subjected to selection for opposing life history patterns. Our findings indicate that genomic and transcriptomic data have comparable power for predicting phenotypic characters. Looking at the relationships between the genome and the transcriptome, we find that the expression of individual transcripts is influenced by many sites across the genome that are differentiated between the two types of populations. We find that single-nucleotide polymorphisms (SNPs), transposable elements, and indels are powerful predictors of gene expression. Collectively, our results suggest that the genomic architecture of adaptation is highly polygenic with extensive pleiotropy.","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":"139521095","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