Gene Reports最新文献_第8页

Autophagic genes and antioxidant status during doxorubicin therapy under temperature-stressed conditions in breast cancer cells 乳腺癌细胞在温度应激条件下接受多柔比星治疗期间的自噬基因和抗氧化状态

IF 1

Gene Reports Pub Date : 2024-08-08 DOI: 10.1016/j.genrep.2024.102009

Firas S. Salah , Amer T. Tawfeeq , Noah A. Mahmood , Khansaa R. Al-Saadi , Tiba H. Jaafar , Amna Y. Al-Obaidi

{"title":"Autophagic genes and antioxidant status during doxorubicin therapy under temperature-stressed conditions in breast cancer cells","authors":"Firas S. Salah , Amer T. Tawfeeq , Noah A. Mahmood , Khansaa R. Al-Saadi , Tiba H. Jaafar , Amna Y. Al-Obaidi","doi":"10.1016/j.genrep.2024.102009","DOIUrl":"10.1016/j.genrep.2024.102009","url":null,"abstract":"<div><h3>Objectives</h3><p>Autophagy as a cellular event swings between apoptosis induction and cellular maintenance during chemotherapy. The interplay between autophagy and reactive oxygen species (ROS) remains obscure in cancer progression and treatment. This study aimed to determine the combination effect of chemotherapy and hyperthermia on cancer cell proliferation, autophagy signaling, and oxidative stress status.</p></div><div><h3>Methods</h3><p>To estimate the autophagic genes' role and antioxidant capacity involvement during chemotherapy, human breast cancer cell lines (MCF7 and CAL51) were exposed to a high temperature at 42 °C and treated with doxorubicin (DOX). The MTT assays were performed to determine the cell survival levels, and the autophagic gene expression levels (ATG5, LC3A, LC3B, and Beclin1) were analyzed. The intracellular TAS (total antioxidant status) and SOD (superoxide dismutase) activities were determined.</p></div><div><h3>Results</h3><p>The combined effects of high temperature with chemotherapy significantly reduced cell viability and cell survival compared to cells treated with the chemotherapeutic agent DOX alone. The cell's autophagic gene activities were significantly increased after exposure to 42 °C temperature and DOX-based chemotherapy compared to the cells treated with DOX alone. It was observed that TAS and SOD activities were increased in the cell lines exposed to high temperatures with DOX compared to the cells treated with DOX alone. Increased autophagic gene expression levels and cell death were observed in response to the high temperature and DOX treatment in breast cancer cells.</p></div><div><h3>Conclusion</h3><p>The study may provide a plausible route and treatment plan for the individual adoption of cancer chemotherapy and be developed as part of the personalized medicine protocol.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141964498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

High levels of nucleotide diversity of a protein kinase gene, MAPK5 in populations of wild rice (Oryza rufipogon Griff.) from Thailand and Lao PDR 泰国和老挝人民民主共和国野生稻（Oryza rufipogon Griff.）

IF 1

Gene Reports Pub Date : 2024-08-06 DOI: 10.1016/j.genrep.2024.102008

Preecha Prathepha , Ross H. Andrews

{"title":"High levels of nucleotide diversity of a protein kinase gene, MAPK5 in populations of wild rice (Oryza rufipogon Griff.) from Thailand and Lao PDR","authors":"Preecha Prathepha , Ross H. Andrews","doi":"10.1016/j.genrep.2024.102008","DOIUrl":"10.1016/j.genrep.2024.102008","url":null,"abstract":"<div><p>Protein kinase plays important roles in plant growth, development, and responses to various biotic and abiotic stresses. Levels of nucleotide diversity, however, have not been investigated to date in natural populations of wild rice. In this study, the diversity of the <em>MAPK5</em> gene and its characteristics were analyzed in samples of wild rice collected from natural populations in Thailand and Lao PDR, using a re-sequencing DNA technique. For the entire of 514 nucleotides sequence analyzed, non-synonymous, synonymous substitutions, and frame-shift indels were identified in coding sequence of exon1, but not for exon2. For non-coding sequences, indel mutations were present in the sequenced region of the first intron of the <em>MAPK5</em> gene. These results suggest that alternative splicing transcripts of the <em>MAPK5</em> gene are potentially generated in response to various environment factors. There was substantial nucleotide variation with a high estimate of nucleotide diversity (π = 0.18113), number of haplotypes (H = 15), and the number of polymorphic sites (S = 319). The Tajima's <em>D</em> value of the <em>MAPK5</em> gene was 1.673 (<em>p</em> > 0.10), suggesting that the <em>MAPK5</em> gene of wild rice evolved neutrally. The high level of nucleotide diversity found in natural populations of wild rice may provide populations with the opportunity to adapt to environmental changes in their natural habitats.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141952929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Recent advances in molecular breeding and key insights into major pulse improvement efforts for sustainable food security 分子育种的最新进展以及对主要脉动改良工作的重要见解，以促进可持续粮食安全

IF 1

Gene Reports Pub Date : 2024-08-06 DOI: 10.1016/j.genrep.2024.101997

Ahmed Hassen , Fikru Mekonnen , Kerstin K. Zander , Nuru Seid , Agegnehu Mekonen , Semira Ibrahim , Solomon Abebe

{"title":"Recent advances in molecular breeding and key insights into major pulse improvement efforts for sustainable food security","authors":"Ahmed Hassen , Fikru Mekonnen , Kerstin K. Zander , Nuru Seid , Agegnehu Mekonen , Semira Ibrahim , Solomon Abebe","doi":"10.1016/j.genrep.2024.101997","DOIUrl":"10.1016/j.genrep.2024.101997","url":null,"abstract":"<div><p>Pulses are important crops for global food security and are highly adaptable to diverse environmental conditions. Despite these merits, pulses often face neglect and undervaluation in production. Conventional breeding has been successful for centuries in improving various traits, based on their superior agronomic performance. However, this is a phenotype-based selection that is laborious, expensive, inefficient, error-prone, and often poorly adaptive. To address these challenges, molecular breeding has emerged as a valuable approach, bridging the gap between phenotype and genotype.</p><p>Consequently, we aimed to review recent advances in molecular breeding for major pulse crops, and the introgression of novel genes providing a comprehensive overview of breeding strategies for sustainable food security, particularly in developing countries. Genetic improvement through molecular breeding tools has been used to reliably improve pulse nutritional quality traits (such as taste, aroma, protein digestibility, essential amino acid profile, and the absence of anti-nutritional factors) and resistance to environmental stresses. Accordingly, the integration of next-generation genome sequencing, genome-wide association studies, high-throughput phenotyping, and omics research approaches are accelerating the discovery of the genetic loci underlying these traits and improving pulse research, mainly for key pulses like soybean, chickpea, broad bean, common bean, field pea, grass pea, cowpea, mung bean, and lentil. In general, molecular interventions in pulse breeding hold great promise for improving food and nutrition security, particularly in developing countries.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141962552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluation of the Fluorion HCV QNP v3.0 real-time PCR assay for quantifying HCV RNA in Moroccan patients: A comparative study with COBAS AmpliPrep/COBAS TaqMan HCV v2.0 对 Fluorion HCV QNP v3.0 实时 PCR 检测摩洛哥患者 HCV RNA 定量的评估：与 COBAS AmpliPrep/COBAS TaqMan HCV v2.0 的比较研究

IF 1

Gene Reports Pub Date : 2024-08-06 DOI: 10.1016/j.genrep.2024.102004

Salma Madihi , Samia Boukaira , Hind Bouafi , Warda Baha , Bouchra Belkadi , Abdelouaheb Benani

{"title":"Evaluation of the Fluorion HCV QNP v3.0 real-time PCR assay for quantifying HCV RNA in Moroccan patients: A comparative study with COBAS AmpliPrep/COBAS TaqMan HCV v2.0","authors":"Salma Madihi , Samia Boukaira , Hind Bouafi , Warda Baha , Bouchra Belkadi , Abdelouaheb Benani","doi":"10.1016/j.genrep.2024.102004","DOIUrl":"10.1016/j.genrep.2024.102004","url":null,"abstract":"<div><h3>Purpose</h3><p>Hepatitis C Virus (HCV) RNA quantification is crucial for diagnosing and monitoring chronic HCV treatment. Cost-effective methods are crucial to ensure accessibility. This study evaluated the Fluorion HCV QNP v3.0 Real-Time PCR assay's effectiveness in EDTA-plasma and serum, comparing it with the COBAS AmpliPrep/COBAS TaqMan HCV v2.0 (CAP/CTM HCV v2.0) test.</p></div><div><h3>Methods</h3><p>105 matched pairs of EDTA-plasma and serum specimens (91 positive and 14 negative) from HCV infected Moroccan patients were analyzed using the Fluorion HCV QNP v3.0 assay and compared to the CAP/CTM HCV v2.0 test, being the reference method.</p></div><div><h3>Results</h3><p>The values obtained by the Fluorion HCV QNP v3.0 in plasma were slightly higher than those in serum (3.94 ± 2.23 log<sub>10</sub> IU/mL versus 3.91 ± 2.22 log<sub>10</sub> IU/mL) and were both significantly lower than those quantified by the CAP/CTM HCV v2.0 assay (4.34 ± 2.28 log<sub>10</sub> IU/mL; <em>p</em> < 0.001). High correlations were observed between the Fluorion HCV QNP v3.0 serum and CAP/CTM HCV v2.0 (R<sup>2</sup> = 0.9433), the Fluorion HCV QNP v3.0 plasma and CAP/CTM HCV v2.0 (R<sup>2</sup> = 0.949) and the Fluorion HCV QNP v3.0 serum and plasma (R<sup>2</sup> = 0.9954). HCV RNA was detected in all tested genotypes by both assays.</p></div><div><h3>Conclusion</h3><p>The Fluorion HCV QNP v3.0 assay demonstrated excellent performance in comparison with the CAP/CTM HCV v2.0 on both plasma and serum samples which can be used interchangeably for HCV quantification. The test was shown to be suitable for disease monitoring including all HCV genotypes.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141952619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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 among Ethiopian sweet sorghum [Sorghum bicolor (L.) Moench] accessions using simple sequence repeat markers 利用简单序列重复标记研究埃塞俄比亚甜高粱[Sorghum bicolor (L.) Moench]品种的遗传多样性

IF 1

Gene Reports Pub Date : 2024-08-05 DOI: 10.1016/j.genrep.2024.102007

Melkamu Genet , Wosene Gebreselassie , Tsegaye Getahun , Tileye Feyissa

{"title":"Genetic diversity among Ethiopian sweet sorghum [Sorghum bicolor (L.) Moench] accessions using simple sequence repeat markers","authors":"Melkamu Genet , Wosene Gebreselassie , Tsegaye Getahun , Tileye Feyissa","doi":"10.1016/j.genrep.2024.102007","DOIUrl":"10.1016/j.genrep.2024.102007","url":null,"abstract":"<div><p>Sweet sorghum (<em>Sorghum bicolor</em> (L.) Moench) is the only grain and stalk crop that can be used for multipurpose. Despite its global significance and potential, it faced genetic erosion. These are due to low productivity and lower farmers' preferences, which is not considered one of the most important cereal crops in Ethiopia. To utilize and popularize these crops, understanding the genetic diversity and population structure is a pre-request. Therefore, this study was aimed to assess the genetic diversity and population structure of selected 82 Ethiopian sweet sorghum accessions using 10 simple sequence repeat (SSR) markers that represent seven geographic regions of Ethiopia. The study revealed a total of 116 alleles with a mean of 11.6 alleles per locus. All used microsatellite loci were highly polymorphic with polymorphic information content (PIC) ranging from 0.75 to 0.90 with an average of 0.82. They showed high gene diversity ranging from 0.59 to 0.81 with an overall mean of 0.70. There was a moderate genetic differentiation (FST = 0.21) showing the presence of high gene flow (Nm = 5.033) where 91 % of the total variation was accounted for within populations genetic variability. The clustering, principal coordinate analysis (PCoA) and population structure did not cluster the studied populations into a separate group according to their geographical origin. In conclusion, the highest intra-population diversity was observed among populations of North Wollo (He = 0.81) and South Wollo (He = 0.79), and hence these areas can be considered as hot spots for the identification of novel traits. Therefore, the present study has generated baseline information for breeders to improve Ethiopian sweet sorghum through breeding, management, and conservation of the available genetic resources.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142228552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Whole-genome analyses reveal selective signals in four Xinjiang cattle breeds 全基因组分析揭示了四个新疆牛品种的选择信号

IF 1

Gene Reports Pub Date : 2024-08-03 DOI: 10.1016/j.genrep.2024.102000

Yilin Wen , Junxi Huang , Yunyun Zhang , JiaHui Li , Lei Xu , Qiuming Chen , Yang Guo , Juan Geng

{"title":"Whole-genome analyses reveal selective signals in four Xinjiang cattle breeds","authors":"Yilin Wen , Junxi Huang , Yunyun Zhang , JiaHui Li , Lei Xu , Qiuming Chen , Yang Guo , Juan Geng","doi":"10.1016/j.genrep.2024.102000","DOIUrl":"10.1016/j.genrep.2024.102000","url":null,"abstract":"<div><p>Xinjiang is home to three indigenous cattle breeds (Xinjiang Mongolian, Altay white-headed, and Kazakh cattle) and one crossbreed (Xinjiang Brown cattle), each possessing distinct and remarkable characteristics. In this study, we conducted comprehensive genome analyses of these four breeds in comparison with eight representative cattle breeds from around the world. Despite being predominantly <em>Bos taurus</em>, the proportion of <em>Bos indicus</em> ancestry in these indigenous breeds decreases with increasing latitude. This mixed genomic composition contributes to higher nucleotide diversity, lower linkage disequilibrium, and larger effective population sizes. Notably, Xinjiang Brown cattle exhibited higher LD at short distances, faster LD decay, and the largest effective population size, indicative of hybrid characteristics. Furthermore, we identified selective signals for lipids dynamics and coat colour in Altay white-headed cattle, immune resistance to local pathogens in Kazakh cattle, hydro-electrolyte balance and immune response in Xinjiang Mongolian cattle, and rapid growth and large body size in Xinjiang Brown cattle, as well as substance metabolism in three indigenous cattle. Our findings not only deepen the understanding of breed origins and diversity but also provide a foundation for exploring the genetic mechanisms underlying breed characteristics and facilitating further breed improvement.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141961427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Establishment of the contribution of AGBL5 in autosomal recessive retinitis pigmentosa: Experience from an Iranian family evaluation and literature review 确定 AGBL5 在常染色体隐性色素性视网膜炎中的作用：一个伊朗家庭的评估经验和文献综述

IF 1

Gene Reports Pub Date : 2024-08-03 DOI: 10.1016/j.genrep.2024.102002

Somaye Mohamadian , Hassan Khojasteh , Fatemeh Bazvand , Masoud Garshasbi

{"title":"Establishment of the contribution of AGBL5 in autosomal recessive retinitis pigmentosa: Experience from an Iranian family evaluation and literature review","authors":"Somaye Mohamadian , Hassan Khojasteh , Fatemeh Bazvand , Masoud Garshasbi","doi":"10.1016/j.genrep.2024.102002","DOIUrl":"10.1016/j.genrep.2024.102002","url":null,"abstract":"<div><h3>Background</h3><p>Retinitis Pigmentosa (RP) as inherited disease of the retina causes vision impairment due to progressive abnormalities of photoreceptors or the retinal pigment epithelial cells. RP as a clinical heterogenous disorder characterized by wide genetic heterogeneity with a broad range of causative genes involved in the genesis of the disease. Pathogenic variants in AGBL5 have been reported in few cases with RP. The aim of this study is to identify the accurate clinical diagnosis of RP in an Iranian family based on the combination of clinical and genetic investigations.</p></div><div><h3>Materials and methods</h3><p>We used whole exome sequencing (WES) to identify the pathogenic genetic defect responsible for RP in an Iranian family with consanguineous marriage. Using various filtering steps, we filtered out the exome data to narrow down the annotated variants. Variant prioritization was done based on a panel of RP genes.</p></div><div><h3>Results</h3><p>All the annotated variants from WES analysis were passed through various filtering steps depending upon allelic frequency, genomic position, protein impact, pathogenic effect, previous relevance to the disease phenotype and quality of the variants. Finally, we found the nonsense homozygous change in <em>AGBL5</em> gene (NM_021831.6; c.1729C>T; p.Arg577Ter). The RP phenotypes of the proband were similar to previous reports.</p></div><div><h3>Conclusion</h3><p>This study can provide further evidence regarding the relationship of pathogenic variants in <em>AGBL5</em> as a cause of RP and we believe that it can provide evidences for the relationship between clinical manifestations and pathogenic variants.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142077565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Associative study of maternal genetic variations with preeclampsia in Russian population: SNP-SNP interactions and haplotypes association 俄罗斯人群中母体基因变异与子痫前期的关联研究：SNP-SNP 相互作用和单倍型关联

IF 1

Gene Reports Pub Date : 2024-08-02 DOI: 10.1016/j.genrep.2024.102006

Oksana Yurievna Bordaeva , Ekaterina Grigorievna Derevyanchuk , Dema Alset , Maria Aleksandrovna Amelina , Tatiana Pavlovna Shkurat

{"title":"Associative study of maternal genetic variations with preeclampsia in Russian population: SNP-SNP interactions and haplotypes association","authors":"Oksana Yurievna Bordaeva , Ekaterina Grigorievna Derevyanchuk , Dema Alset , Maria Aleksandrovna Amelina , Tatiana Pavlovna Shkurat","doi":"10.1016/j.genrep.2024.102006","DOIUrl":"10.1016/j.genrep.2024.102006","url":null,"abstract":"<div><p>Preeclampsia is a pregnancy-associated hypertensive pathology that affects maternal and fetal quality of life. It was linked to several environmental and genetic factors including genetic polymorphisms. This study aimed to study the association, SNP-SNP interactions and haplotypes associations of thrombophilia, folate cycle and hypertension maternal genetic variations with preeclampsia risk in Russian women from Rostov region. 53 pregnant women diagnosed with preeclampsia were compared with 3108 women with relatively healthy pregnancy. DNA was extracted from blood samples and real time allele specific PCR was used for genotyping. MDR analysis was used for SNP-SNP interactions study. According to our data, <em>F5</em>(G1691A) and <em>ITGB3</em>(T1565C) mutant homozygotes were associated with higher risk of preeclampsia. <em>MTRR</em> (A66G) mutant allele (G) was shown as significant preeclampsia risk factor. <em>ADD1</em> (G1378T) showed significantly higher frequency of mutant allele (T) and mutant homozygote genotype (TT) in preeclampsia patients comparing to control group. MDR showed that this polymorphism has the higher entropy among targeted variations which was confirmed by binary haplotypes association study. We have also examined linkage disequilibrium showing two haploblocks in between the studied genetic variations included <em>MTHFR</em> (C677T) and <em>MTHFR</em> (A1298C) block and <em>AGT</em> (T704C) with <em>AGT</em> (C521T) block. Results suggest several genetic variations and haplotypes as perspective maternal marker for preeclampsia which will contribute to improve prognosis tools and accordingly treatment and prevention possibilities.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141952618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Y chromosome genes interplay with interval timing in regulating mating duration of male Drosophila melanogaster Y染色体基因与间隔时间相互作用，调节雄性黑腹果蝇的交配持续时间

IF 1

Gene Reports Pub Date : 2024-08-02 DOI: 10.1016/j.genrep.2024.101999

Yongwen Huang , Alex Kwan , Woo Jae Kim

{"title":"Y chromosome genes interplay with interval timing in regulating mating duration of male Drosophila melanogaster","authors":"Yongwen Huang , Alex Kwan , Woo Jae Kim","doi":"10.1016/j.genrep.2024.101999","DOIUrl":"10.1016/j.genrep.2024.101999","url":null,"abstract":"<div><p>We explore the understudied role of Y chromosome genes in modulating mating behaviors and interval timing in male fruit flies. Our findings reveal a significant impact of these genes on mating duration, a critical aspect of sexual selection and reproductive success. Through the use of XO males lacking a Y chromosome and RNA interference (RNAi) techniques to knockdown specific Y chromosome genes, we demonstrate that the Y chromosome and its genes <em>WDY</em> and <em>CCY</em> are essential for the generation of Longer-Mating-Duration (LMD) and Shorter-Mating-Duration (SMD) behaviors. Notably, the neuronal knockdown of <em>Ppr-Y</em>, a gene highly expressed in both neuronal and glial cells, leads to profound disruptions in courtship and mating behaviors without affecting fertility. Utilizing the fly SCope scRNA-seq data platform, we identified that several Y chromosome genes, including <em>kl-3</em>, <em>kl-5</em>, <em>WDY</em>, and <em>PRY</em>, are preferentially expressed in fru-positive neurons, suggesting a role in male-specific neuronal populations. Our work not only advances the understanding of the Y chromosome's contribution to complex mating behaviors but also sets the stage for future investigations into the molecular mechanisms underlying sexual dimorphism and reproductive strategies in <em>Drosophila</em>.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141978176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report 一名女性患者的 MED12 基因首次出现无义变异，并伴有完全的 Maat-Kievit-Brunner 表型（Ohdo 综合征）：病例报告

IF 1

Gene Reports Pub Date : 2024-08-02 DOI: 10.1016/j.genrep.2024.102005

N. Amllal , J. Lyahyai , S.C. Elalaoui , A. Sefiani , I. Ratbi

{"title":"First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report","authors":"N. Amllal , J. Lyahyai , S.C. Elalaoui , A. Sefiani , I. Ratbi","doi":"10.1016/j.genrep.2024.102005","DOIUrl":"10.1016/j.genrep.2024.102005","url":null,"abstract":"<div><h3>Background</h3><p>Ohdo syndrome (OMIM≠ 249,620) is a clinically heterogeneous group of genetic disorders mainly characterized by intellectual disability, blepharophimosis and specific facial features. It comprises five distinct subtypes, each exhibiting unique clinical characteristics. Herein, we report a novel case of the Maat-Kievit-Brunner (OSMKB; X-linked recessive) subtype caused by a novel pathogenic <em>MED12</em> nonsense variant, classically associated with missense variants of the <em>MED12</em> gene (Xq13.1). Moreover, we conduct a comparative analysis of reported <em>MED12</em> pathogenic variants in the literature.</p></div><div><h3>Case presentation</h3><p>Our patient is a five-year-old girl demonstrating a complete OSMKB phenotype. She exhibits all the characteristic features associated to this latter including intellectual disability, developmental delay, indicative dysmorphia featured by blepharophemosis and a triangular face, and hypotonia.</p></div><div><h3>Conclusions</h3><p>clinical and molecular data of this rare case expands the clinical and genetic landscapes of <em>MED12</em> gene which is considered important for establishing strong genotype-phenotype correlations as much as for genetic counselling.</p></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141962700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0