Journal of Genetics最新文献_第9页

Fly clock, my clock, and lamin B receptor 飞钟、我的钟和薄片 B 受体

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-12-21 DOI: 10.1007/s12041-023-01452-8

D. P. Kasbekar

引用次数: 0

Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity 你为什么打自己?单基因自身免疫的全外显子组测序诊断

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-11-25 DOI: 10.1007/s12041-023-01450-w

Lina M. Castano-Jaramillo, Francisco Rivas Larrauri, Selma C. Scheffler-Mendoza, Alonso Gutierrez-Hernandez, Juan Carlos Bustamante Ogando, Paulina Colin, Margarita Ortega Cisneros, Sandra Rajme-López, Edgar Alejandro Medina-Torres, Laura Berron Ruiz, Ana Luisa Rodriguez-Lozano, Sara Elva Espinosa Padilla, Marco Antonio Yamazaki-Nakashimada, Saul O. Lugo Reyes

{"title":"Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity","authors":"Lina M. Castano-Jaramillo, Francisco Rivas Larrauri, Selma C. Scheffler-Mendoza, Alonso Gutierrez-Hernandez, Juan Carlos Bustamante Ogando, Paulina Colin, Margarita Ortega Cisneros, Sandra Rajme-López, Edgar Alejandro Medina-Torres, Laura Berron Ruiz, Ana Luisa Rodriguez-Lozano, Sara Elva Espinosa Padilla, Marco Antonio Yamazaki-Nakashimada, Saul O. Lugo Reyes","doi":"10.1007/s12041-023-01450-w","DOIUrl":"https://doi.org/10.1007/s12041-023-01450-w","url":null,"abstract":"Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed to identify the potential monogenic causes of autoimmune disorders in 26 patients from a pediatric reference hospital in Mexico through whole-exome sequencing. We specifically selected patients with a family history of autoimmune diseases, early-onset symptoms, and difficult-to-control autoimmune disorders or autoimmunity associated with infection predisposition. We identified the genetic variants that were compatible with the patients' phenotype in 54% of the patients. Autoimmune diseases are often caused by a combination of genetic factors, but cases that appear at a young age are resistant to treatment or occur in clusters, as well as the presence of autoimmune symptoms alongside infectious diseases should raise suspicion for an underlying inborn error of immunity.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"355 2","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138506362","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 diversity analysis of volunteer wheat based on SSR markers 基于SSR标记的志愿小麦遗传多样性分析

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-11-25 DOI: 10.1007/s12041-023-01451-9

Wangcang Su, Hongle Xu, Lanlan Sun, Chuantao Lu, Renhai Wu

{"title":"Genetic diversity analysis of volunteer wheat based on SSR markers","authors":"Wangcang Su, Hongle Xu, Lanlan Sun, Chuantao Lu, Renhai Wu","doi":"10.1007/s12041-023-01451-9","DOIUrl":"https://doi.org/10.1007/s12041-023-01451-9","url":null,"abstract":"Volunteer wheat is a kind of wheat with weed characteristics, distributed widely in the main wheat-producing areas of China. It seriously damages the yield and quality of cultivated wheat. To study the genetic diversity and population structure within and between volunteer wheat and cultivated wheat (Triticum aestivum L.), 195 volunteer wheat seeds and 29 cultivated wheat seeds were analysed based on 16 pairs of highly-polymorphic microsatellite simple sequence repeats (SSR) primers and a microchip capillary electrophoresis (MCE) detection system. A total of 110 polymorphic alleles were detected by MCE with each pair of primers identifying 2–15 alleles with an average of 6.875 alleles. The polymorphic information content (PIC) ranged from 0.1089 to 0.7843, with an average of 0.5613. Genetic diversity arguments from 224 samples showed that the volunteer wheat was more varied than cultivated wheat. Based on the SSR information, the 224 samples were classified into seven groups, which corresponded to the volunteer wheats and cultivated wheats through principal coordinates analysis (PCA). We propose that the volunteer wheat and cultivated wheat have rather distant phylogenetic relationships. Hence, it is important for wheat breeding to study the genetic relationship between volunteer wheat and cultivated wheat.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"352 2","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138506363","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

olf413, a putative octopamine biosynthesis pathway gene is required for negative geotactic motor function in Drosophila melanogaster olf413是一种推测的章鱼胺生物合成途径基因，它是黑腹果蝇负地理定向运动功能的必需基因

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-11-16 DOI: 10.1007/s12041-023-01449-3

Ravindrakumar Ramya, Baragur Venkatanarayanasetty Shyamala

引用次数: 0

Exploring the influences of geographical variation on sequence signatures in the human gut microbiome 探索地理差异对人类肠道微生物组序列特征的影响

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-11-16 DOI: 10.1007/s12041-023-01448-4

Gauraw Kumar, Punyasloke Bhadury

{"title":"Exploring the influences of geographical variation on sequence signatures in the human gut microbiome","authors":"Gauraw Kumar, Punyasloke Bhadury","doi":"10.1007/s12041-023-01448-4","DOIUrl":"https://doi.org/10.1007/s12041-023-01448-4","url":null,"abstract":"Geography shapes the structure and function of human gut microbiomes. In this study, we have explored the available human gut microbiome 16S rRNA sequence datasets of cohorts representing large geographical gradients. The 16S rRNA sequences representing V3-V4 as well as V4 regions generated using Illumina sequencing chemistry in the MiSeq platform encompassing the United States of America, Chile, South Africa, Kuwait, and Malaysia were subjected to in-depth computational biology analyses. Firmicutes and Bacteroidetes were the most dominant phyla present in all studied cohorts but Actinobacteria was exclusively present in high abundance in cohorts from Malaysia (15.99%). The relative abundance of five families, namely Bacteroidaceae, Ruminococcaceae, Prevotellaceae, Clostridiaceae, and Eubacteriaceae were highest representing the studied cohorts. The permutational multivariate analysis of variance (PERMANOVA) showed that the dissimilarity in the gut microbiome structure of cohorts representing studied countries was significant (R2 = 0.28, P < 0.001). The calculated Firmicutes to Bacteroidetes (F : B) ratio was found to be lowest in cohorts from South Africa (1.11) and Chile (0.95). The cohorts from South Africa exhibited the highest alpha diversity based on Hill numbers at q=0, whereas at q=1 and 2, cohorts from Malaysia had the highest alpha diversity. The beta diversity analysis revealed that cohorts from Chile formed a distinct cluster among all the studied geographical locations. For the first time, the study also showed that cohorts from Malaysia representing short geographical distances exhibited distinct intrapopulation differences in the gut microbiome and may not be influenced by cultural and genetic factors.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"346 2","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138506351","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 formate dehydrogenase enhances aluminum tolerance of tobacco 甲酸脱氢酶增强烟草对铝的耐受性

4区生物学

Journal of Genetics Pub Date : 2023-10-11 DOI: 10.1007/s12041-023-01447-5

Yonghong Xie, Yunmin Wei, Rongrong Han, Shitian Yu, Hui Xu, Caode Jiang, Yongxiong Yu

引用次数: 0

AICRF: ancestry inference of admixed population with deep conditional random field 具有深度条件随机场的混合种群的祖先推断

4区生物学

Journal of Genetics Pub Date : 2023-10-06 DOI: 10.1007/s12041-023-01445-7

Farhad Alizadeh, Hamid Jazayeriy, Omid Jazayeri, Fatemeh Vafaee

引用次数: 0

Mendel did not study common, naturally occurring phenotypes 孟德尔没有研究常见的、自然发生的表型

4区生物学

Journal of Genetics Pub Date : 2023-09-20 DOI: 10.1007/s12041-023-01446-6

David Curtis

引用次数: 0

Serum exosomal hsa_circRNA_0001842 is the potential biomarker for diagnosing lower limb vascular disease in type 2 diabetes mellitus 血清外泌体hsa_circRNA_0001842是诊断2型糖尿病下肢血管疾病的潜在生物标志物

4区生物学

Journal of Genetics Pub Date : 2023-09-16 DOI: 10.1007/s12041-023-01442-w

Qian-Qian Liu, Xing-Hui Liu, Hai-Ming Wang, Li-Min Xu, Xiao-Jing Zhao, Shu-Guang Han, Zuo-Hua Lu

引用次数: 0

In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia. 利用WGS数据进行血型等位基因的计算机基因分型:马来西亚半岛阿斯利猩猩的比较研究。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Mercy Rophina, Teh Lay Kek, Sridhar Sivasubbu, Vinod Scaria, Mohd Zaki Salleh

{"title":"In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia.","authors":"Mercy Rophina, Teh Lay Kek, Sridhar Sivasubbu, Vinod Scaria, Mohd Zaki Salleh","doi":"","DOIUrl":"","url":null,"abstract":"Differences in the distribution of RBC antigens defining the blood group types among different populations have been well established. Fewer studies exist that have explored the blood group profiles of indigenous populations worldwide. With the availability of population-scale genomic datasets, we have explored the blood group profiles of theOrang Aslis, who are the indigenous population in Peninsular Malaysia and provide a systematic comparison of the same with major global population datasets. Variant call files fromwhole genome sequence data (hg19) of 114 Orang Asli were retrieved from The Orang Asli Genome Project. Systematic variant annotations were performed using ANNOVAR and only those variants mapping back to genes associated with 43 blood group systems and transcription factors KLF1 and GATA1 were filtered. Blood group-associated allele and phenotype frequencies were determined and were duly compared with other datasets including Singapore SequencingMalay Project, aboriginal western desert Australians and global population datasets including The 1000 Genomes Project and gnomAD. This study reports four alleles (rs12075, rs7683365, rs586178 and rs2298720) of DUFFY, MNS, RH and KIDD blood group systems which were significantly distinct between indigenous Orang Asli and cosmopolitanMalaysians. Eighteen alleles that belong to 14 blood group systems were found statistically distinct in comparison to global population datasets. Although not much significant differences were observed in phenotypes of most blood group systems, major insights were observed when comparing Orang Asli with aboriginal Australians and cosmopolitanMalaysians.This study serves as the first of its kind to utilize genomic data to interpret blood group antigen profiles of the OrangAsli population. In addition, a systematic comparison of blood group profiles with related populations was also analysed and documented.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"102 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10220547","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