Genetics and Molecular Biology最新文献_第10页

How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil? 巴西圣保罗州西北部地区如何照顾口面裂患者？

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2023-12-18 eCollection Date: 2023-01-01 DOI: 10.1590/1678-4685-GMB-2023-0167

Marina Cristine Cano Francisquetti, Vera Lúcia Gil-da-Silva-Lopes, Agnes Cristina Fett-Conte

{"title":"How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil?","authors":"Marina Cristine Cano Francisquetti, Vera Lúcia Gil-da-Silva-Lopes, Agnes Cristina Fett-Conte","doi":"10.1590/1678-4685-GMB-2023-0167","DOIUrl":"10.1590/1678-4685-GMB-2023-0167","url":null,"abstract":"Characterization of specific birth defects is essential for conducting scientific investigations, care and therapeutic strategies. This article describes demographic, clinical and genetic aspects, risk factors and access to treatment of Brazilian patients with orofacial clefts registered in a specialized collaborative center of the Brazilian Database on Craniofacial Anomalies (BDCA). We interviewed 70 individuals with typical orofacial clefts using a standard instrument from the database and subjected them to genetic testing. The patients were grouped as syndromic and non-syndromic. The majority of individuals were of lower middle class, native ancestry and syndromic. There was a significant difference in the type of clefts regarding gender. There was no significant difference between bilateral and unilateral, between the side affected, right and left, or familial recurrence related to type of oral cleft. The risk factor familial recurrence was significantly higher among non-syndromic cases. Etiological factors were identified or suggested in 62.5% of the syndromic cases. There was a delay in diagnosis and in access to treatment in most cases. We concluded that gender, native ancestry and low family income represent risk factors. Furthermore, the distribution by cleft types and gender is similar to previous studies. The results can guide scientific investigations and care policies.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10729311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138798812","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

Biomarker potential of the LEF1/TCF family members in breast cancer: Bioinformatic investigation on expression and clinical significance. 乳腺癌中 LEF1/TCF 家族成员的生物标记潜力：关于表达和临床意义的生物信息学研究

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2023-12-15 eCollection Date: 2023-01-01 DOI: 10.1590/1678-4685-GMB-2022-0346

Beatriz Miotto Lima, Alexandre Luiz Korte de Azevedo, Igor Samesima Giner, Talita Helen Bombardelli Gomig, Enilze Maria de Souza Fonseca Ribeiro, Iglenir João Cavalli

{"title":"Biomarker potential of the LEF1/TCF family members in breast cancer: Bioinformatic investigation on expression and clinical significance.","authors":"Beatriz Miotto Lima, Alexandre Luiz Korte de Azevedo, Igor Samesima Giner, Talita Helen Bombardelli Gomig, Enilze Maria de Souza Fonseca Ribeiro, Iglenir João Cavalli","doi":"10.1590/1678-4685-GMB-2022-0346","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2022-0346","url":null,"abstract":"The LEF1/TCF transcription factor family is related to the development of diverse tissue types, including the mammary tissue, and dysregulation of its expression and function has been described to favor breast tumorigenesis. However, the clinical and biological relevance of this gene family in breast cancer is still poorly understood. Here, we used bioinformatics approaches aiming to reduce this gap. We investigated its expression patterns in molecular and immune breast cancer subtypes; its correlation with immune cell infiltration, and its prognostic values in predicting outcomes. Also, through regulons construction, we determined the genes whose expression is influenced by these transcription factors, and the pathways in which they are involved. We found that LEF1 and TCF3 are over-expressed in breast tumors regarding non-tumor samples, while TCF4 and TCF7 are down-expressed, with the gene's methylation status being associated with its expression dysregulation. All four transcription factors presented significance at the diagnostic and prognostic levels. LEF1, TCF4, and TCF7 presented a significant correlation with immune cell infiltration, being associated with the immune subtypes of less favorable outcomes. Altogether, this research contributes to a more accurate understanding of the expression and clinical and biomarker significance of the LEF1/TCF transcription factors in breast cancer.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10723634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138798811","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 expression profile of genes that encode the Subcortical Maternal Complex in human reproductive failures. 揭示人类生殖失败中编码皮层下母体复合体的基因表达谱。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2023-12-11 eCollection Date: 2023-01-01 DOI: 10.1590/1678-4685-GMB-2023-0141

Marília Körbes Rockenbach, Lucas Rosa Fraga, Thayne Woycinck Kowalski, Maria Teresa Vieira Sanseverino

{"title":"Revealing the expression profile of genes that encode the Subcortical Maternal Complex in human reproductive failures.","authors":"Marília Körbes Rockenbach, Lucas Rosa Fraga, Thayne Woycinck Kowalski, Maria Teresa Vieira Sanseverino","doi":"10.1590/1678-4685-GMB-2023-0141","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2023-0141","url":null,"abstract":"The Subcortical Maternal Complex (SCMC) is composed of maternally encoded proteins required for the early stages of embryo development. Here we aimed to investigate the expression profile of the genes that encode the individual members of the SCMC in human reproductive failures. To accomplish that, we selected three datasets in the Gene Expression Omnibus repository for differential gene expression (DGE) analysis, comprising human endometrial and placental tissues of patients with recurrent implantation failure (RIF) or recurrent pregnancy loss (RPL). The SCMC genes KHDC3L, NLRP2, NLRP4, NLRP5, OOEP, PADI6, TLE6, and ZBED3 were included in the DGE analysis, as well as CFL1 and CFL2 that connect the SCMC with the actin cytoskeleton. Additionally, differential co-expression analysis and systems biology analysis of gene-gene co-expression were performed for KHDC3L, NLRP5, OOEP, and TLE6, demonstrating gene pairs differentially correlated under the two conditions, and the co-expression with genes involved in immune response, cell cycle, DNA damage repair, embryo development, and male reproduction. Compared to control groups, NLRP5 demonstrated upregulation in the endometrium of RIF patients, and KHDC3L was upregulated in the fetal placental tissue of RPL patients, shedding light on the importance of considering SCMC genes in reproductive failures.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10718294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138798810","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

Neonatal screening for spinal muscular atrophy: A pilot study in Brazil. 新生儿脊髓性肌萎缩症筛查：巴西试点研究。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2023-12-11 eCollection Date: 2023-01-01 DOI: 10.1590/1678-4685-GMB-2023-0126

Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Júlia F Lemos, Fernanda B Pasetto, Carolina S Brasil, Franciele B Trapp, Jonas Alex Morales Saute, Karina Carvalho Donis, Michele Michelin Becker, Paloma Wiest, Vivian L S Coutinho, Simone Castro, Juliana Ferreira, Cynthia Silveira, Maria Fernanda R Bittar, Cristina Wang, Janaina M Lana, Marcondes Cavalcante França Junior, Roberto Giugliani

{"title":"Neonatal screening for spinal muscular atrophy: A pilot study in Brazil.","authors":"Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Júlia F Lemos, Fernanda B Pasetto, Carolina S Brasil, Franciele B Trapp, Jonas Alex Morales Saute, Karina Carvalho Donis, Michele Michelin Becker, Paloma Wiest, Vivian L S Coutinho, Simone Castro, Juliana Ferreira, Cynthia Silveira, Maria Fernanda R Bittar, Cristina Wang, Janaina M Lana, Marcondes Cavalcante França Junior, Roberto Giugliani","doi":"10.1590/1678-4685-GMB-2023-0126","DOIUrl":"10.1590/1678-4685-GMB-2023-0126","url":null,"abstract":"Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal Screening Program tests for six diseases, with a new law issued in 2021 stating that it should incorporate more diseases, including SMA. In the present study, dried blood spot (DBS) samples collected by the Reference Services of Neonatal Screening of RS and SP, to perform the conventional test were also screened for SMA, using real-time PCR, with SALSA MC002 technique. A total of 40,000 samples were analyzed, enabling the identification of four positive cases of SMA, that were confirmed by MLPA. Considering our sampling, Brazil seems to have an incidence comparable to the described in other regions. This work demonstrated that the use of the MC002 technique in samples routinely collected for the conventional NBS program is suitable to screen for SMA in our conditions and can be included in the expansion of the neonatal screening programs.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10718293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138798809","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

In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts. 体外底物还原、伴侣和免疫调节处理可降低III型粘脂症人成纤维细胞中的硫酸肝素。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2023-12-04 eCollection Date: 2023-01-01 DOI: 10.1590/1678-4685-GMB-2023-0117

Fernanda Sperb-Ludwig, Nataniel Floriano Ludwig, Gustavo Mottin Rizowy, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz

{"title":"In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts.","authors":"Fernanda Sperb-Ludwig, Nataniel Floriano Ludwig, Gustavo Mottin Rizowy, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz","doi":"10.1590/1678-4685-GMB-2023-0117","DOIUrl":"10.1590/1678-4685-GMB-2023-0117","url":null,"abstract":"Mucolipidosis II and III (MLII and MLIII) are autosomal recessive diseases caused by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in GlcNAc-1-phosphotransferase. This enzyme adds mannose 6-phosphate residues to lysosomal hydrolases, which allows enzymes to enter lysosomes. Defective GlcNAc-1-phosphotransferase causes substrate accumulation and inflammation. These diseases have no treatment, and we hypothesized that the use of substrate reduction therapy and immunomodulation may be beneficial at the cell level and as a future therapeutic approach. Fibroblasts from two patients with MLIII alpha/beta and 2 patients with MLIII gamma as well as from one healthy control were treated with 10 µM miglustat, 20 µM genistein, and 20 µM thalidomide independently. ELISA assay and confocal immunofluorescence microscopy were used to evaluate the presence of heparan sulfate (HS) and the impact on substrate accumulation. ELISA assay showed HS reduction in all patients with the different treatments used (p=0.05). HS reduction was also observed by immunofluorescence microscopy. Our study produced encouraging results, since the reduction in substrate accumulation, even partial, may offer benefits to the phenotype of patients with inborn errors of metabolism.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694850/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138477340","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

Characterization of a new anellovirus species infecting an ocelot (Leopardus pardalis) in Brazil. 巴西一只猫鼬感染的一种新型无肠病毒的特征。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2023-12-04 eCollection Date: 2023-01-01 DOI: 10.1590/1678-4685-GMB-2023-0015

Liliane T F Cavalcante, Matheus A C Cosentino, Mirela D'arc, Filipe R R Moreira, Ricardo Mouta, Anderson M Augusto, Fernando Troccoli, Marcelo A Soares, André F Santos

引用次数: 0

Genome-wide identification and evolutionary view of ALOG gene family in Solanaceae. 茄科植物ALOG基因家族的全基因组鉴定及进化观点。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2023-11-24 eCollection Date: 2023-01-01 DOI: 10.1590/1415-4757-GMB-2023-0142

Caroline Turchetto, Ariadne de Castro Silvério, Edgar Luis Waschburger, Maria Eduarda Gonçalves Lacerda, Isadora Vieira Quintana, Andreia Carina Turchetto-Zolet

{"title":"Genome-wide identification and evolutionary view of ALOG gene family in Solanaceae.","authors":"Caroline Turchetto, Ariadne de Castro Silvério, Edgar Luis Waschburger, Maria Eduarda Gonçalves Lacerda, Isadora Vieira Quintana, Andreia Carina Turchetto-Zolet","doi":"10.1590/1415-4757-GMB-2023-0142","DOIUrl":"10.1590/1415-4757-GMB-2023-0142","url":null,"abstract":"The ALOG gene family, which was named after its earliest identified members ( Arabidopsis LSH1 and Oryza G1), encodes a class of transcription factors (TF) characterized by the presence of a highly conserved ALOG domain. These proteins are found in various plant species playing regulatory roles in plant growth, development, and morphological diversification of inflorescence. The functional characterization of these genes in some plant species has demonstrated their involvement in floral architecture. In this study, we used a genome-wide and phylogenetic approach to gain insights into plants' origin, diversification, and functional aspects of the ALOG gene family. In total, 648 ALOG homologous genes were identified in 77 Viridiplantae species, and their evolutionary relationships were inferred using maximum likelihood phylogenetic analyses. Our results suggested that the ALOG gene family underwent several rounds of gene duplication and diversification during angiosperm evolution. Furthermore, we found three functional orthologous groups in Solanaceae species. The study provides insights into the evolutionary history and functional diversification of the ALOG gene family, which could aid in understanding the mechanisms underlying floral architecture in angiosperms.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10695626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138482212","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

Cranial morphological variation of Ctenomys lami (Rodentia: Ctenomyidae) in a restricted geographical distribution. 在有限的地理分布中，棘球绦虫(啮齿目:棘球绦虫科)的颅形态变异。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2023-11-13 eCollection Date: 2023-01-01 DOI: 10.1590/1678-4685-GMB-2023-0130

Rodrigo Fornel, Renan Maestri, Pedro Cordeiro-Estrela, Daniela Sanfelice, Thales Renato O de Freitas

{"title":"Cranial morphological variation of Ctenomys lami (Rodentia: Ctenomyidae) in a restricted geographical distribution.","authors":"Rodrigo Fornel, Renan Maestri, Pedro Cordeiro-Estrela, Daniela Sanfelice, Thales Renato O de Freitas","doi":"10.1590/1678-4685-GMB-2023-0130","DOIUrl":"10.1590/1678-4685-GMB-2023-0130","url":null,"abstract":"The relationship between chromosomal and morphological variation in mammals is poorly understood. We analyzed the cranial size and shape variation in Ctenomys lami concerning to the geographic variation in their chromosome numbers. This subterranean rodent occurs in a narrow range of sand-dunes in the Coastal Plain of southern Brazil. This species presents a high karyotypic variation with diploid numbers varying from 2n = 54 to 2n = 58, involving the fission and fusion of chromosome pairs 1 and 2. Due to different chromosome rearrangement frequencies along their geographic distribution, four karyotypic blocks were proposed. This study, explored cranium shape and size variation in geographical, chromosomal polymorphism, and chromosome rearrangements contexts to test whether the four karyotypic blocks reflect morphologically distinct units. For this, we measured 89 craniums using geometric morphometrics and used uni and multivariate statistics to discriminate the predicted groups and test for an association among chromosomal and morphological variation. Our results show the size and shape of sexual dimorphism, with males larger than females, and support the existence of four karyotypic blocks for Ctenomys lami based on morphological variation. However, our results do not support a direct relationship between chromosomal and cranial morphological variation in C. lami.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"107590842","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

Evolution and diversification of the O-methyltransferase (OMT) gene family in Solanaceae. 茄科植物O-甲基转移酶（OMT）基因家族的进化和多样化。

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2023-11-10 eCollection Date: 2023-01-01 DOI: 10.1590/1678-4685-GMB-2023-0121

Pedro Henrique Pezzi, Leonardo Tresoldi Gonçalves, Maríndia Deprá, Loreta Brandão de Freitas

{"title":"Evolution and diversification of the O-methyltransferase (OMT) gene family in Solanaceae.","authors":"Pedro Henrique Pezzi, Leonardo Tresoldi Gonçalves, Maríndia Deprá, Loreta Brandão de Freitas","doi":"10.1590/1678-4685-GMB-2023-0121","DOIUrl":"10.1590/1678-4685-GMB-2023-0121","url":null,"abstract":"O-methyltransferases (OMTs) are a group of enzymes involved in several fundamental biological processes in plants, including lignin biosynthesis, pigmentation, and aroma production. Despite the intensive investigation of the role of OMTs in plant secondary metabolism, the evolution and diversification of this gene family in Solanaceae remain poorly understood. Here, we conducted a genome-wide survey of OMT genes in six Solanaceae species, reconstructing gene phylogenetic trees, predicting the potential involvement in biological processes, and investigating the exon/intron structure and chromosomal location. We identified 57 caffeoyl-CoA OMTs (CCoAOMTs) and 196 caffeic acid OMTs (COMTs) in the studied species. We observed a conserved gene block on chromosome 2 that consisted of tandem duplicated copies of OMT genes. Our results suggest that the expansion of the OMT gene family in Solanaceae was driven by whole genome duplication, segmental duplication, and tandem duplication, with multiple genes being retained by neofunctionalization and subfunctionalization. This study represents an essential first step in unraveling the evolutionary history of OMTs in Solanaceae. Our findings deepen our understanding of the crucial role of OMTs in several biological processes and highlight their significance as potential biotechnological targets.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10637433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72209045","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

Phenotypic and molecular basis for genetic variation in jelly palms (Butia sp.): where are we now and where are we headed to? 果冻棕榈（Butia sp.）遗传变异的表型和分子基础：我们现在在哪里，我们将走向哪里？

IF 2.1 4区生物学

Genetics and Molecular Biology Pub Date : 2023-11-10 eCollection Date: 2023-01-01 DOI: 10.1590/1678-4685-GMB-2023-0145

Camila Fritzen Cidón, Andreia Carina Turchetto-Zolet, Miklos Maximiliano Bajay, Maria Imaculada Zucchi, Enéas Ricardo Konzen

{"title":"Phenotypic and molecular basis for genetic variation in jelly palms (Butia sp.): where are we now and where are we headed to?","authors":"Camila Fritzen Cidón, Andreia Carina Turchetto-Zolet, Miklos Maximiliano Bajay, Maria Imaculada Zucchi, Enéas Ricardo Konzen","doi":"10.1590/1678-4685-GMB-2023-0145","DOIUrl":"10.1590/1678-4685-GMB-2023-0145","url":null,"abstract":"We compiled studies that addressed morphological and physicochemical traits, as well as population genetic studies involving jelly palms, genus Butia (Arecaceae). First, we conducted a bibliometric study with selected articles, by revising the fundamental contributions to unraveling phenotypic traits that have been used for describing the phenotypic variation within and among populations. Moreover, we sought to comprehend the patterns of genetic diversity and structure that have been presented so far, based on molecular markers. Finally, we conducted a review of the gene sequences registered to NCBI for Butia. Overall, morphological descriptors have been proposed to depict population-level variability, but the most significant results are available from chemical properties and characterization of metabolites, revealing important traits to being explored. Yet, limited information is available to describe population variation and their genetic components. On the molecular level, almost all studies so far provided results with classical molecular markers. The literature of SNP markers for Butia species is virtually non-existent. Given the current endangered state of Butia species, it is urgent that researchers pursue updated genomic technologies to invest in in-depth characterizations of the genetic diversity and structure of jelly palms. The current state of population fragmentation urges effective measures toward their conservation.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10637346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72209047","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