Genetics and Molecular Biology最新文献_第6页

Characterization of the chemoreceptor repertoire of a highly specialized fly with comparisons to other Drosophila species. 一种高度特化的蝇类化学感受器的特性以及与其他果蝇物种的比较。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-06-14 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2022-0383

Pedro Mesquita Fonseca, Lizandra Jaqueline Robe, Tuane Letícia Carvalho, Elgion Lucio Silva Loreto

{"title":"Characterization of the chemoreceptor repertoire of a highly specialized fly with comparisons to other Drosophila species.","authors":"Pedro Mesquita Fonseca, Lizandra Jaqueline Robe, Tuane Letícia Carvalho, Elgion Lucio Silva Loreto","doi":"10.1590/1678-4685-GMB-2022-0383","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2022-0383","url":null,"abstract":"To explore the diversity of scenarios in nature, animals have evolved tools to interact with different environmental conditions. Chemoreceptors are an important interface component and among them, olfactory receptors (ORs) and gustatory receptors (GRs) can be used to find food and detect healthy resources. Drosophila is a model organism in many scientific fields, in part due to the diversity of species and niches they occupy. The contrast between generalists and specialists Drosophila species provides an important model for studying the evolution of chemoreception. Here, we compare the repertoire of chemoreceptors of different species of Drosophila with that of D. incompta, a highly specialized species whose ecology is restricted to Cestrum flowers, after reporting the preferences of D. incompta to the odor of Cestrum flowers in olfactory tests. We found evidence that the chemoreceptor repertoire in D. incompta is smaller than that presented by species in the Sophophora subgenus. Similar patterns were found in other non-Sophophora species, suggesting the presence of underlying phylogenetic trends. Nevertheless, we also found autapomorphic gene losses and detected some genes that appear to be under positive selection in D. incompta, suggesting that the specific lifestyle of these flies may have shaped the evolution of individual genes in each of these gene families.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 2","pages":"e20220383"},"PeriodicalIF":2.1,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11182316/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141418566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The complete chloroplast genome of Dicliptera tinctoria (Nees) Kostel. and comparative analysis of chloroplast genomes in Acanthaceae. Dicliptera tinctoria (Nees) Kostel.的完整叶绿体基因组以及刺桐科植物叶绿体基因组的比较分析。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-06-14 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0297

Thi Thanh Nga Le, Minh Thiet Vu, Hoang Dang Khoa Do

{"title":"The complete chloroplast genome of Dicliptera tinctoria (Nees) Kostel. and comparative analysis of chloroplast genomes in Acanthaceae.","authors":"Thi Thanh Nga Le, Minh Thiet Vu, Hoang Dang Khoa Do","doi":"10.1590/1678-4685-GMB-2023-0297","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2023-0297","url":null,"abstract":"Dicliptera tinctoria is a member of Acanthaceae, which has a wide distribution and contains potentially medicinal species, and exhibited pharmaceutical potentials. This study sequenced and characterized the complete chloroplast genome of Dicliptera tinctoria. The newly sequenced cpDNA of D. tinctoria was 150,733 bp in length and had a typical quadripartite structure consisting of a large single copy (LSC, 82,895 bp), a small single copy (SSC, 17,249 bp), and two inverted repeat (IRs, 25,295 bp each) regions. This genome also contained 80 protein-coding genes, 30 transfer RNAs, and four ribosomal RNAs, which is identical to other chloroplast genomes in Acanthaceae family. Nucleotides diversity analysis among chloroplast genomes of Acanthaceae species revealed eight hypervariable regions, including trnK_UUU-matK, trnC_GCA-petN, accD, rps12-clpP, rps3-rps19, ycf1-ndhF, ccsA-ndhD, and ycf1. Phylogenetic analysis revealed the paraphyly of Dicliptera species and monophyly in four Acanthaceae subfamilies. These results provide an overview of genomic variations in Acanthaceae chloroplast genome, which is helpful for further genomic studies.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 2","pages":"e20230297"},"PeriodicalIF":2.1,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11182309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141418567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Revealing the role of Peg13: A promising therapeutic target for mitigating inflammation in sepsis. 揭示 Peg13 的作用：缓解败血症炎症的有望治疗靶点。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-05-31 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0205

Dan Wang, Zhiqiang Lin, Meixia Su, Yiqing Zhou, Mengjie Ma, Minghui Li

{"title":"Revealing the role of Peg13: A promising therapeutic target for mitigating inflammation in sepsis.","authors":"Dan Wang, Zhiqiang Lin, Meixia Su, Yiqing Zhou, Mengjie Ma, Minghui Li","doi":"10.1590/1678-4685-GMB-2023-0205","DOIUrl":"10.1590/1678-4685-GMB-2023-0205","url":null,"abstract":"To investigate the role of Peg13 in modulating the inflammatory response in sepsis, we established Lipopolysaccharide (LPS)-induced 293T cells and mouse models. Peg13 expression was assessed at various time points after infection using RT-qPCR. The levels of high mobility group box 1 (HMGB1) and interleukin-6 (IL-6) were quantified through ELISA. A total of 44 septic patients and 36 healthy participants were recruited to measure Peg13 and HMGB1 levels in the blood. Peg13 demonstrated significant down-regulation in the supernatant of LPS-induced 293T cells and in the blood of LPS-induced mice. Moreover, the levels of proinflammatory cytokines HMGB1 and IL-6 were elevated in both the supernatant of LPS-induced cell models and blood specimens from LPS-induced murine models, and this elevation could be notably reduced by Peg13 suppression. In a clinical context, Peg13 and HMGB1 levels were higher in septic patients compared to healthy subjects. Peg13 exhibited a negative correlation with HMGB1, C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR) among septic patients. Peg13 mitigates the inflammatory response by reducing the release of proinflammatory cytokines HMGB1 and IL-6 in sepsis, presenting a potential therapeutic target for alleviating inflammation in sepsis treatment.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 2","pages":"e20230205"},"PeriodicalIF":2.1,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11151158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141295892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of chaperone-mediated autophagy in drug resistance. 伴侣介导的自噬在耐药性中的作用

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-05-31 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0317

Ana Beatriz da Silva Teixeira, Maria Carolina Clares Ramalho, Izadora de Souza, Izabela Amélia Marques de Andrade, Isabeli Yumi Araújo Osawa, Camila Banca Guedes, Beatriz Silva de Oliveira, Cláudio Henrique Dahne de Souza Filho, Tainá Lins da Silva, Natália Cestari Moreno, Marcela Teatin Latancia, Clarissa Ribeiro Reily Rocha

{"title":"The role of chaperone-mediated autophagy in drug resistance.","authors":"Ana Beatriz da Silva Teixeira, Maria Carolina Clares Ramalho, Izadora de Souza, Izabela Amélia Marques de Andrade, Isabeli Yumi Araújo Osawa, Camila Banca Guedes, Beatriz Silva de Oliveira, Cláudio Henrique Dahne de Souza Filho, Tainá Lins da Silva, Natália Cestari Moreno, Marcela Teatin Latancia, Clarissa Ribeiro Reily Rocha","doi":"10.1590/1678-4685-GMB-2023-0317","DOIUrl":"10.1590/1678-4685-GMB-2023-0317","url":null,"abstract":"In the search for alternatives to overcome the challenge imposed by drug resistance development in cancer treatment, the modulation of autophagy has emerged as a promising alternative that has achieved good results in clinical trials. Nevertheless, most of these studies have overlooked a novel and selective type of autophagy: chaperone-mediated autophagy (CMA). Following its discovery, research into CMA's contribution to tumor progression has accelerated rapidly. Therefore, we now understand that stress conditions are the primary signal responsible for modulating CMA in cancer cells. In turn, the degradation of proteins by CMA can offer important advantages for tumorigenesis, since tumor suppressor proteins are CMA targets. Such mutual interaction between the tumor microenvironment and CMA also plays a crucial part in establishing therapy resistance, making this discussion the focus of the present review. Thus, we highlight how suppression of LAMP2A can enhance the sensitivity of cancer cells to several drugs, just as downregulation of CMA activity can lead to resistance in certain cases. Given this panorama, it is important to identify selective modulators of CMA to enhance the therapeutic response.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 Suppl 1","pages":"e20230317"},"PeriodicalIF":2.1,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11145944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141199521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Modulation of tumor plasticity by senescent cells: Deciphering basic mechanisms and survival pathways to unravel therapeutic options. 衰老细胞对肿瘤可塑性的调节：解密基本机制和生存途径，探索治疗方案。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-05-27 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0311

Andrew Oliveira Silva, Thais Cardoso Bitencourt, Jose Eduardo Vargas, Lucas Rosa Fraga, Eduardo Filippi-Chiela

{"title":"Modulation of tumor plasticity by senescent cells: Deciphering basic mechanisms and survival pathways to unravel therapeutic options.","authors":"Andrew Oliveira Silva, Thais Cardoso Bitencourt, Jose Eduardo Vargas, Lucas Rosa Fraga, Eduardo Filippi-Chiela","doi":"10.1590/1678-4685-GMB-2023-0311","DOIUrl":"10.1590/1678-4685-GMB-2023-0311","url":null,"abstract":"Senescence is a cellular state in which the cell loses its proliferative capacity, often irreversibly. Physiologically, it occurs due to a limited capacity of cell division associated with telomere shortening, the so-called replicative senescence. It can also be induced early due to DNA damage, oncogenic activation, oxidative stress, or damage to other cellular components (collectively named induced senescence). Tumor cells acquire the ability to bypass replicative senescence, thus ensuring the replicative immortality, a hallmark of cancer. Many anti-cancer therapies, however, can lead tumor cells to induced senescence. Initially, this response leads to a slowdown in tumor growth. However, the longstanding accumulation of senescent cells (SnCs) in tumors can promote neoplastic progression due to the enrichment of numerous molecules and extracellular vesicles that constitutes the senescence-associated secretory phenotype (SASP). Among other effects, SASP can potentiate or unlock the tumor plasticity and phenotypic transitions, another hallmark of cancer. This review discusses how SnCs can fuel mechanisms that underlie cancer plasticity, like cell differentiation, stemness, reprogramming, and epithelial-mesenchymal transition. We also discuss the main molecular mechanisms that make SnCs resistant to cell death, and potential strategies to target SnCs. At the end, we raise open questions and clinically relevant perspectives in the field.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47Suppl 1 Suppl 1","pages":"e20230311"},"PeriodicalIF":2.1,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11132560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141161301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic diversity and conservation in Bromeliaceae based on SSR markers. 基于 SSR 标记的凤梨科植物遗传多样性和保护。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-04-26 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0135

Milene Ferreira Barcellos, Laís Mara Santana Costa, Fernanda Bered

{"title":"Genetic diversity and conservation in Bromeliaceae based on SSR markers.","authors":"Milene Ferreira Barcellos, Laís Mara Santana Costa, Fernanda Bered","doi":"10.1590/1678-4685-GMB-2023-0135","DOIUrl":"10.1590/1678-4685-GMB-2023-0135","url":null,"abstract":"Bromeliaceae has been used as a model Neotropical group to study evolutionary and diversification processes. Moreover, since large parts of the Neotropics are under anthropogenic pressure, a high percentage of possibly threatened species occurs. Despite this, concrete proposals for conservation based on genetic data are lacking. We compilated all genetic data obtained by nuclear microsatellites for Bromeliaceae and compared the levels of genetic diversity of subfamilies and their taxa, considering traits of life history and distribution in conservation and no conservation areas. We retrieved a total of 87 taxa (ca. 2.5% of the family size) and most present a mixed mating system, anemochoric dispersion, are ornithophilous, and were sampled outside Conservation Units, the majority occurring in the Atlantic Forest. Also, we found differences in some genetic indexes among taxa concerning seed dispersal mechanisms (e.g. Zoochoric taxa with higher diversity and lower inbreeding), mating systems (e.g. autogamous taxa showed higher inbreeding), outside/inside conservation units (allelic richness higher in not protected areas), and among different subfamilies (e.g. higher genetic diversity in Bromelioideae). The results obtained in this review can be useful for proposing conservation strategies, can facilitate the comparison of related taxa, and can help advance studies on the Bromeliaceae family.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"46 3 Suppl 1","pages":"e20230135"},"PeriodicalIF":2.1,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11113272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141081184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Breeding for reduced seed dormancy to domesticate new grass species. 通过育种降低种子休眠，驯化新的草种。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-04-12 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0262

Nicolás Glison, Paola Gaiero, Eliana Monteverde, Pablo R Speranza

{"title":"Breeding for reduced seed dormancy to domesticate new grass species.","authors":"Nicolás Glison, Paola Gaiero, Eliana Monteverde, Pablo R Speranza","doi":"10.1590/1678-4685-GMB-2023-0262","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2023-0262","url":null,"abstract":"Introducing new grass species into cultivation has long been proposed as beneficial to increase the sustainability and diversity of productive systems. However, wild species with potential tend to show high seed dormancy, causing slow, poor, and unsynchronized seedling emergence. Meanwhile, domesticated species, such as cereals, show lower seed dormancy, facilitating their successful establishment. In this work, we conduct a review of phenotypic variation on seed dormancy and its genetic and molecular basis. This quantitative and highly heritable trait shows phenotype plasticity which is modulated by environmental factors. The level of dormancy depends on the expression of genes associated with the metabolism and sensitivity to the hormones abscisic acid (ABA) and gibberellins (GA), along with other dormancy-specific genes. The genetic regulation of these traits is highly conserved across species. The low seed dormancy observed in cereals and some temperate forages was mostly unconsciously selected during various domestication processes. Emphasis is placed on selecting materials with low seed dormancy for warm-season forage grasses to improve their establishment and adoption. Finally, we review advances in the domestication of dallisgrass, where seed dormancy was considered a focus trait throughout the process.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47Suppl 1 Suppl 1","pages":"e20230262"},"PeriodicalIF":2.1,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11046443/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140848585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Horizontal transfer and the widespread presence of Galileo transposons in Drosophilidae (Insecta: Diptera). 果蝇科（昆虫纲：双翅目）中的水平转移和伽利略转座子的广泛存在。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-29 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0143

Henrique R M Antoniolli, Sebastián Pita, Maríndia Deprá, Vera L S Valente

{"title":"Horizontal transfer and the widespread presence of Galileo transposons in Drosophilidae (Insecta: Diptera).","authors":"Henrique R M Antoniolli, Sebastián Pita, Maríndia Deprá, Vera L S Valente","doi":"10.1590/1678-4685-GMB-2023-0143","DOIUrl":"10.1590/1678-4685-GMB-2023-0143","url":null,"abstract":"Galileo is a transposon notoriously involved with inversions in Drosophila buzzatii by ectopic recombination. Although widespread in Drosophila, little is known about this transposon in other lineages of Drosophilidae. Here, the abundance of the canonical Galileo and its evolutionary history in Drosophilidae genomes was estimated and reconstructed across genera within its two subfamilies. Sequences of this transposon were masked in these genomes and their transposase sequences were recovered using BLASTn. Phylogenetic analyses were employed to reconstruct their evolutionary history and compare it to that of host genomes. Galileo was found in nearly all 163 species, however, only 37 harbored nearly complete transposase sequences. In the remaining, Galileo was found highly fragmented. Copies from related species were clustered, however horizontal transfer events were detected between the melanogaster and montium groups of Drosophila, and between the latter and the Lordiphosa genus. The similarity of sequences found in the virilis and willistoni groups of Drosophila was found to be a consequence of lineage sorting. Therefore, the evolution of Galileo is primarily marked by vertical transmission and long-term inactivation, mainly through the deletion of open reading frames. The latter has the potential to lead copies of this transposon to become miniature inverted-repeat transposable elements.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"46 3 Suppl 1","pages":"e20230143"},"PeriodicalIF":1.7,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10990002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140857808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF. 囊性纤维化跨膜调节因子基因型与 CF 成人患者的临床结果、葡萄糖稳态指数和 CF 相关糖尿病风险之间的关系。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-29 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0021

Noémie Bélanger, Anne Bonhoure, Tamizan Kherani, Valérie Boudreau, François Tremblay, Annick Lavoie, Maite Carricart, Ashish Marwaha, Rémi Rabasa-Lhoret, Kathryn J Potter

{"title":"Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF.","authors":"Noémie Bélanger, Anne Bonhoure, Tamizan Kherani, Valérie Boudreau, François Tremblay, Annick Lavoie, Maite Carricart, Ashish Marwaha, Rémi Rabasa-Lhoret, Kathryn J Potter","doi":"10.1590/1678-4685-GMB-2023-0021","DOIUrl":"10.1590/1678-4685-GMB-2023-0021","url":null,"abstract":"People living with cystic fibrosis (pwCF) homozygous for F508del present more severe phenotypes. PwCF with compound heterozygous genotypes F508del /A455E and F508del /L206W may have milder cystic fibrosis (CF) phenotypes. We compared F508del homozygotes and common compound heterozygotes (F508del and a second pathogenic variant) in adult patients. Nutritional, pulmonary function and glucose homeostasis indices data were collected from the prospective Montreal CF cohort. Two-hundred and three adults with CF having at least one F508del variant were included. Individuals were divided into subgroups: homozygous F508del/F508del (n=149); F508del/621+1G>T (n=17); F508del/711+1G>T (n=11); F508del/A455E (n=12); and F508del/L206W (n=14). Subgroups with the F508del/L206W and F508del/A455E had a lower proportion with pancreatic exocrine insufficiency (p<0.0001), a higher fat mass (p<0.0001), and lower glucose area under the curve (AUC) (p=0.027). The F508del/L206W subgroup had significantly higher insulin secretion (AUC; p=0.027) and body mass index (p<0.001). Pulmonary function (FEV1) was significantly higher for the F508del/L206W subgroup (p<0.0001). Over a median of 7.37 years, the risk of developing CFRD in 141 patients was similar between groups. PwCF with heterozygous F508del/L206W and F508del/A455E tended to have pancreatic exocrine sufficiency, better nutritional status, improved pulmonary function and better diabetogenic indices, but this does not translate into lower risk of CF-related Diabetes.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 1","pages":"e20230021"},"PeriodicalIF":2.1,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10993309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140335301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Karyotypic characterization of Centromochlus schultzi Rössel 1962 (Auchenipteridae, Centromochlinae) from the Xingu River basin: New inferences on chromosomal evolution in Centromochlus. Xingu 河流域 Centromochlus schultzi Rössel 1962（Auchenipteridae，Centromochlinae）的核型特征：Centromochlus 染色体进化的新推论。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2024-03-25 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0105

Samantha Kowalski, Chrystian Aparecido Grillo Haerter, Diana Paula Perin, Fábio Hiroshi Takagui, Patrik Ferreira Viana, Eliana Feldberg, Daniel Rodrigues Blanco, Josiane Baccarin Traldi, Lucia Giuliano-Caetano, Roberto Laridondo Lui

{"title":"Karyotypic characterization of Centromochlus schultzi Rössel 1962 (Auchenipteridae, Centromochlinae) from the Xingu River basin: New inferences on chromosomal evolution in Centromochlus.","authors":"Samantha Kowalski, Chrystian Aparecido Grillo Haerter, Diana Paula Perin, Fábio Hiroshi Takagui, Patrik Ferreira Viana, Eliana Feldberg, Daniel Rodrigues Blanco, Josiane Baccarin Traldi, Lucia Giuliano-Caetano, Roberto Laridondo Lui","doi":"10.1590/1678-4685-GMB-2023-0105","DOIUrl":"10.1590/1678-4685-GMB-2023-0105","url":null,"abstract":"Centromochlinae is a widely diverse subfamily with more than 50 species and several taxonomic conflicts due to morphological similarity between Tatia and Centromochlus species. However, cytogenetic studies on this group have been limited to only four species so far. Therefore, here we present the karyotype of Centromochlus schultzi from the Xingu River in Brazil using classic cytogenetic techniques, physical mapping of the 5S and 18S rDNAs, and telomeric sequences (TTAGGG)n. The species had 58 chromosomes, simple NORs and 18S rDNA sites. Heterochromatic regions were detected on the terminal position of most chromosomes, including pericentromeric and centromeric blocks that correspond to interstitial telomeric sites. The 5S rDNA had multiple sites, including a synteny with the 18S rDNA in the pair 24st, which is an ancestral feature for Doradidae, sister group of Auchenipteridae, but appears to be a homoplastic trait in this species. So far, C. schultzi is only the second species within Centromochlus to be karyotyped, but it has already presented characteristics with great potential to assist in future discussions on taxonomic issues in the subfamily Centromochlinae, including the first synteny between rDNAs in Auchenipteridae and also the presence of heterochromatic ITSs that could represent remnants of ancient chromosomal fusions.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 1","pages":"e20230105"},"PeriodicalIF":2.1,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10993310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140293336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0