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Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review. 在中国儿童吸收性高钙尿症患者中发现的两个新型杂合ADCY10变体:病例报告和文献综述。
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Yucheng Ge, Yukun Liu, Ruichao Zhan, Zhenqiang Zhao, Wenying Wang, Ye Tian
{"title":"Two novel heterozygous <i>ADCY10</i> variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review.","authors":"Yucheng Ge, Yukun Liu, Ruichao Zhan, Zhenqiang Zhao, Wenying Wang, Ye Tian","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Absorptive hypercalciuria (AH) is a prevalent cause of kidney stones, and the adenylate cyclase 10 (<i>ADCY10</i>) gene is a rare causative gene of AH. This study aims to investigate the genotypic and phenotypic characteristics of patients with AH caused by <i>ADCY10</i> gene mutations. Whole-exome sequencing and Sanger sequencing were performed on the probands and their family members, respectively. Clinical and genetic data of patients with AH caused by <i>ADCY10</i> gene mutations were collected and analysed retrospectively from the present study and published literature. Two female patients (6 years old and 1 year old) with multiple bilateral kidney stones were found to have a heterozygous c.3304T>C mutation and a heterozygous c.1726C>T mutation in the <i>ADCY10</i> gene. Urinary metabolite analysis revealed that urine calcium / creatinine ratios were 0.95 mmol/mmol and 1.61 mmol/mmol, respectively. Both patients underwent thiazide intake postoperatively, and upon reexamination, urine calcium decreased to within the normal range. A total of 61 patients with AH were reported from previous and present studies. The sex ratio was 7:5 for males to females, and the mean age of onset was 23.61±20.08 years. A total of 16 <i>ADCY10</i> gene mutations were identified, including seven missense (43.75%), five splicing (31.25%), two frameshift (12.50%) and two nonsense mutations (12.50%). Only two cases were identified as homozygous mutations (c.1205_1206del), and the others were heterozygous mutations. In summary, we identified two novel <i>ADCY10</i> gene candidate pathogenic variants in Chinese pediatric patients, which expands the mutational spectrum of the <i>ADCY10</i> gene and provides a potential diagnostic and therapeutic target.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139521124","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
COQ7 splice site variant causing a spastic paraparesis phenotype in siblings. COQ7 剪接位点变异导致同胞出现痉挛性截瘫表型。
IF 2.9 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Haseena Sait, Manmohan Pandey, Shubha R Phadke
{"title":"COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.","authors":"Haseena Sait, Manmohan Pandey, Shubha R Phadke","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The <i>COQ7</i> gene is one of the causative genes for primary <i>COQ10</i> deficiency-related disorders. OMIM-related phenotypes include severe encephalo-myo-nephrocardiopathy and distal hereditary motor neuronopathy. In the present study, we performed the exome sequencing analysis on the proband of a single family with two siblings affected by hereditary spastic paraparesis (HSP). Segregation analysis was conducted on the affected siblings and parents using the Sanger sequencing. <i>In silico</i> secondary and tertiary pre-mRNA structure analysis and protein modelling were carried out. Exome sequencing identified a homozygous splice site variant in the <i>COQ7</i> gene (NM_016138.5: c.367+G>A) in the proband. Sanger sequencing confirmed the homozygous status in the affected sibling and heterozygous status in both parents, consistent with autosomal recessive inheritance. <i>In silico</i> secondary and tertiary premRNA structure analysis and protein modelling predicted the deleterious nature of the variant. This case highlights a distinct intermediate phenotype of <i>COQ7</i> related disorders comprising early-onset spastic paraparesis due to a novel splice site variant in the <i>COQ7</i> gene. This expands the spectrum of clinical manifestations associated with <i>COQ7</i> deficiency and underscores the importance of considering <i>COQ7</i> gene mutations in the differential diagnosis of HSP.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855713","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 first complete mitochondrial genome of the critically endangered Malaysian giant turtle, Orlitia borneensis (Testudines: Geoemydidae). 极度濒危的马来西亚巨龟 Orlitia borneensis(龟鳖目:Geoemydidae)的首个完整线粒体基因组。
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Mohd Hairul Mohd Salleh, Yuzine Esa
{"title":"The first complete mitochondrial genome of the critically endangered Malaysian giant turtle, <i>Orlitia borneensis</i> (Testudines: Geoemydidae).","authors":"Mohd Hairul Mohd Salleh, Yuzine Esa","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We present here the complete mitochondrial sequence of the critically endangered Malaysian giant turtle, <i>Orlitia borneensis</i>. The assembled mitochondrial genome includes 13 protein-coding genes (PCGs), 22 transfer RNA (tRNA) genes, two ribosomal RNA genes (rRNAs), and one control region. This mitochondrial genome has been archived in the NCBI GenBank with accession number OQ808845. The <i>Batagur</i> control region is relatively smaller than <i>O. borneensis</i> and closer to <i>Aldabrachelys gigantea</i>, which suggests potentially that <i>O. borneensis</i> has undergone an expansion in the control region.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141237452","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
Fly clock, my clock, and lamin B receptor. 飞钟、我的钟和片剂 B 受体。
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Durgadas P Kasbekar
{"title":"Fly clock, my clock, and lamin B receptor.","authors":"Durgadas P Kasbekar","doi":"","DOIUrl":"","url":null,"abstract":"&lt;p&gt;&lt;p&gt;In the fruit fly &lt;i&gt;Drosophila melanogaster&lt;/i&gt;, circadian rhythm was disrupted when the inner nuclear membrane protein lamin B receptor (LBR) was depleted from its clock neurons (&lt;i&gt;Proc. Natl. Acad. Sci. USA&lt;/i&gt; 118, e2019756118. 2021; https://doi.org/10. 1073/pnas.2019756118 and &lt;i&gt;Research&lt;/i&gt; 6, 0139, 2023; https://doi.org/10.34133/research.0139). Ordinarily, the clock proteinPERIOD (PER) forms foci close to the inner nuclear membrane in the circadian clock's repression phase. The size, number, and location of foci near the nuclear membrane oscillate with a 24-h rhythm. When LBR was absent the foci did not form. The PER foci bring &lt;i&gt;per&lt;/i&gt; and other clock genes close to the nuclear envelope, where their transcription is silenced. Then, in the circadian clock's activation phase, the PER protein gradually gets degraded and the foci disappear. The clock genes, including &lt;i&gt;per&lt;/i&gt;, relocate to the nucleus interior where they resume transcription. Rhythmic re-positioning of clock genes between nucleus periphery and interior, correlates with their repression and activation in the circadian cycle. Absence of LBR disrupted this rhythm. Phosphorylation of PER promoted the formation of foci whereas dephosphorylation by protein phosphatase 2A causedthem to disappear. LBR promoted focus formation by destabilizing the catalytic subunit of protein phosphatase 2A. The &lt;i&gt;lbr&lt;/i&gt; gene is no stranger to this journal. The first hint that vertebrate LBR is also a sterol biosynthesis enzyme, specifically, a sterol C14 reductase, was reported here (&lt;i&gt;J. Genet&lt;/i&gt;. 73, 33-41, 1994; https://www.ias.ac.in/article/fulltext/jgen/073/01/0033-0041). Mutations in the human &lt;i&gt;Lbr&lt;/i&gt; gene cause a range of phenotypes--from the relatively benign Pelger-Huet anomaly to the perinatally lethal Greenberg skeletal dysplasia.Drosophila, like all insects, is a sterol auxotroph. The fly orthologue of vertebrate &lt;i&gt;lbr&lt;/i&gt; genes encodes a protein (dLBR) that shares several properties with vertebrate LBR proteins, with one notable exception. While human LBR complemented theyeast Saccharomyces cerevisiae erg24 mutant which lacks sterol C14 reductase activity, dLBR did not (&lt;i&gt;J. Cell. Sci. 117&lt;/i&gt;, 2015-28, 2004; https://doi.org/10.1242/jcs.01052). Despite not possessing sterol reductase activity, dLBR retains significant sequence homology with vertebrate LBRs which have this activity. An undergraduate summer trainee in my laboratory obtained early (unpublished) evidence that dLBR lost sterol reductase activity during evolution. She transferred adult drosophila flies to vials containing a medium made of agar, dextrose, and dried and powdered mycelium of the filamentous fungus &lt;i&gt;Neurospora crassa&lt;/i&gt;. On medium made with wild-type mycelium, theflies mated, laid eggs, hatched larvae, and developed pupae which eclosed progeny adult flies. The life cycle was no different than on 'regular' fly food composed of agar, dextrose and yeast extract. However, on a medium made with my","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139377795","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
FSTest: an efficient tool for cross-population fixation index estimation on variant call format files. FSTest:对变异调用格式文件进行跨种群固定指数估算的高效工具。
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Seyed Milad Vahedi, Siavash Salek Ardestani
{"title":"FSTest: an efficient tool for cross-population fixation index estimation on variant call format files.","authors":"Seyed Milad Vahedi, Siavash Salek Ardestani","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Fixation index (<i>F<sub>st</sub></i>) statistics provide critical insights into evolutionary processes affecting the structure of genetic variation within and among populations. <i>F<sub>st</sub></i> statistics have been widely applied in population and evolutionary genetics to identify genomic regions targeted by selection pressures. The FSTest 1.3 software was developed to estimate four <i>F<sub>st</sub></i> statistics of Hudson, Weir and Cockerham, Nei, and Wright using high-throughput genotyping or sequencing data. Here, we introduced FSTest 1.3 and compared its performance with two widely used software VCFtools 0.1.16 and PLINK 2.0. Chromosome 1 of 1000 Genomes Phase III variant data belonging to South Asian (<i>n</i> = 211) and African (<i>n</i> = 274) populations were included as an example case in this study. Different <i>F<sub>st</sub></i> estimates were calculated for each single-nucleotide polymorphism (SNP) in a pairwise comparison of South Asian against African populations, and the results of FSTest 1.3 were confirmed by VCFtools 0.1.16 and PLINK 2.0. Two different sliding window approaches, one based on a fixed number of SNPs and another based on a fixed number of base pair (bp) were conducted using FSTest 1.3 and VCFtools 0.1.16. Our results showed that regions with low coverage genotypic data could lead to an overestimation of <i>F<sub>st</sub></i> in sliding window analysis using a fixed number of bp. FSTest 1.3 could mitigate this challenge by estimating the average of consecutive SNPs along the chromosome. FSTest 1.3 allows direct analysis of VCF files with a small amount of code and can calculate <i>F<sub>st</sub></i> estimates on a desktop computer for more than a million SNPs in a few minutes. FSTest 1.3 is freely available at https://github.com/similab/FSTest.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139521093","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
Molecular data reveals a new genus of blindsnakes within Asiatyphlopinae from India. 分子数据揭示了来自印度的亚洲百步蛇科(Asiatyphlopinae)中的一个新属。
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Chinta Sidharthan, Pragyadeep Roy, K Praveen Karanth
{"title":"Molecular data reveals a new genus of blindsnakes within Asiatyphlopinae from India.","authors":"Chinta Sidharthan, Pragyadeep Roy, K Praveen Karanth","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The genus <i>Indotyphlops</i> has a widespread distribution in the Indian landmass and Southeast Asia, with 20 reported species. The current classification within the genus is based on morphology. In this study, we sampled all the reported <i>Indotyphlops</i> species from subcontinental India, to resolve relationships within this genus and to understand biogeographic patterns that resulted in the widespread distribution. We generated sequences for five nuclear markers which were used in the global typhlopoid phylogeny and built phylogenetic trees of the superfamily Typhlopoidea. We also carried out divergence time analysis and biogeographic analysis to understand the time and modes of dispersal and diversification of these species. The results show <i>Indotyphlops</i> sensu lato to be polyphyletic, with the clade consisting of <i>I. porrectus</i> and <i>I. exiguus</i> sister to a clade consisting of the southeast Asian typhlopid genera <i>Ramphotyphlops</i>, <i>Anilios</i>, <i>Malayotyphlops</i>, <i>Acutotyphlops</i>, <i>Sundatyphlops</i>, and <i>Indotyphlops</i> sensu stricto. The other clade consists of <i>I. pammeces</i> and <i>I. braminus</i> from the Indian subcontinent and <i>I. albiceps</i> from Southeast Asia. Biogeographical analysis suggests two dispersals from Asia to the Indian landmass-an earlier dispersal from Eurasia into India led to the lineage consisting of <i>I. porrectus</i> and <i>I. exiguus</i>, followed by a later dispersal that evolved into <i>I. pammeces</i> and <i>I. braminus</i>. These results necessitate a taxonomic revision. We propose the genus <i>Pseudoindotyphlops</i> gen. nov. for the clade currently consisting of the most recent common ancestor (MRCA) of <i>I. porrectus</i> and <i>I. exiguus</i>, and all descendants thereof.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139521100","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 effect of modification of DNA interference on myostatin gene expression in mice. DNA 干扰修饰对小鼠肌生长蛋白基因表达的影响
IF 1.5 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Mitra Riasi, Sina Mozaffari-Jovin, Ali Javadmanesh
{"title":"The effect of modification of DNA interference on myostatin gene expression in mice.","authors":"Mitra Riasi, Sina Mozaffari-Jovin, Ali Javadmanesh","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Myostatin is a known negative regulator of muscle tissue growth. Thus, an inhibitor of myostatin may be therapeutically useful as an anabolic agent for the muscle tissue. A promising gene-silencing approach for gene therapy is DNA interference (DNAi), a sequence that is complementary to the promoter region of a target gene. To confer resistance to nuclease digestion, several modifications such as methylphosphonate or phosphorothioate have been proposed, wherein a nonbridging oxygen atom in the oligonucleotide phosphate backbone is replaced by sulphur. The aim of the present study was to assess the effectiveness of the DNAi molecule with phosphorothioate (PS) and without phosphorothioate (WPS) modification for inhibition of myostatin gene expression in mice. Eighteen four-week-old male BALB/c mice were randomly divided into three groups: DNAi-PS (<i>n</i> = 6), DNAi-WPS (<i>n</i> = 6) and control (<i>n</i> = 6). Intraperitoneal injections of DNAi (10 mg/kg) were given once a week, and mice body weights were measured weekly and sacrificed after three weeks. The expression of myostatin was assessed using real-time quantitative polymerace chain reaction. For histological evaluation, the skeletal muscle tissue was dissected from the biceps. The results were analysed by a <i>t</i>-test. Results demonstrated that administration of DNAi intraperitoneally with modification could suppress myostatin expression by up to 70%. Leg weight and histological analysis proved that chemically modified DNAi significantly suppressed the myostatin gene in mice. Overall, the results on DNA-induced gene silencing by antisense DNA oligonucleotides in animals can provide insight into the treatment of inherited diseases.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139377796","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
Detection of caudal type homeobox 1 (CDX1) gene methylated DNA,as a stool-based diagnostic biomarker in colorectal cancer. 检测尾端型同源染色体 1 (CDX1) 基因甲基化 DNA,作为基于粪便的结直肠癌诊断生物标记物。
IF 2.9 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Sarina Almasi, Lida Haghnazari, Seyedeh Ozra Hosseini, Nayebali Rezvani
{"title":"Detection of caudal type homeobox 1 (<i>CDX1</i>) gene methylated DNA,as a stool-based diagnostic biomarker in colorectal cancer.","authors":"Sarina Almasi, Lida Haghnazari, Seyedeh Ozra Hosseini, Nayebali Rezvani","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is known to develop due to the accumulation of both genetic and epigenetic alterations, resulting in the conversion of intestinal epithelial cells to malignant adenocarcinoma cells. Caudal type homeobox 1 (<i>CDX1</i>) gene is a homeobox transcription factor and a selective tumour suppressor gene that is an important factor for the development of intestinal cells. This gene plays a role in the differentiation of intestinal epithelial cells, and its expression decreases in a number of cell lines derived from CRC, which suggests that a lack of <i>CDX1</i> expression is a risk factor for the development of colorectal carcinoma. Therefore, the methylated DNA amounts of <i>CDX1</i> gene in stool samples were investigated as a noninvasive method for the detection of CRC. In the present study, the methylation of <i>CDX1</i> gene promoter region was assessed in stool samples of 50 CRC patients and 50 healthy individuals by MethyLight PCR using two primers and a Taq Man probe, which was completely specifically designed for fully methylated DNA of the gene promoter region. The percentage of methylated reference (PMR) of the studied gene in all samples was calculated similarly to previous studies. Statistical analysis was performed using SPSS 16. The PMR medians were 3.25 (95% CI: 0.1-100) and 0.1 (95% CI: 0.07-1) in the stool samples of CRC patients and healthy individuals, respectively. The results showed a significant difference in <i>CDX1</i> gene PMR between stool samples of CRC patients and controls (<i>P</i>-value0.001). According to the results of this study, it can be argued that measurement of <i>CDX1</i> gene DNA in stool samples using the MethyLight PCR has acceptable sensitivity and specificity, and is adequately potential to be used as a noninvasive complementary method for the diagnosis of CRC, along with colonoscopy as the gold standard to this end. This study is the first report on <i>CDX1</i> methylation in stool samples of CRC patients. Therefore, further research should be carried out with a larger sample size to evaluate its efficacy as a diagnostic biomarker in clinical laboratories.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141759167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel intron variant in the prolactin gene associated with eggshell weight and thickness with putative alternative splicing patterns in chickens. 催乳素基因中的一个新内含子变异与鸡蛋壳重量和厚度有关,并具有假定的替代剪接模式。
IF 2.9 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Dhafer A Ali, Nihad Abdul-Lateef Ali, Thamer R S Aljubouri, Mohammed Baqur S Al-Shuhaib
{"title":"A novel intron variant in the prolactin gene associated with eggshell weight and thickness with putative alternative splicing patterns in chickens.","authors":"Dhafer A Ali, Nihad Abdul-Lateef Ali, Thamer R S Aljubouri, Mohammed Baqur S Al-Shuhaib","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Raising Iraqi indigenous chickens (IIC) is restricted by their thin and low eggshell weights. Due to the importance of the prolactin (<i>Prl</i>) gene in regulating a wide range of egg production traits, this study assessed the potential genetic polymorphisms associated with <i>Prl</i> that may influence these traits. The polymorphism was examined in three <i>Prl</i> loci of the IIC breed (<i>n</i> = 120) in comparison with the standard Hyline breed (<i>n</i> = 120). The polymorphism of both breeds was associated with eggshell weight and thickness indices for 16 weeks, starting from the 44th to the 59th week. After genotyping three loci within <i>Prl</i> by polymerase chain reaction-single-stranded conformation polymorphism (SSCP) method, only one novel SNP was identified in intron 4, namely 129G>A. The identified intron SNP exerted a significant association with both eggshell thickness and weight indices throughout the investigation period. Birds with GG genotype exhibited higher indices of eggshell thickness and weight than those with the GA and AA genotypes, respectively. The employed <i>in silico</i> tools predicted a remarkable ability for the identified SNP to alter the mRNA splicing pattern, which might be related to altered prolactin activity in birds having an alternative allele A. This study is the first to suggest the significance of this novel intron SNP in assessing eggshell traits in chickens.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142501965","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
Expanding the genetic and phenotypic spectrum of Baker-Gordon syndrome: a new de novo SYT1 variant. 扩展贝克-戈登综合征的遗传和表型谱:一种新的SYT1基因变异。
IF 2.9 4区 生物学
Journal of Genetics Pub Date : 2024-01-01
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Pilar Quijada-Fraile, Francisco Martínez-Azorín
{"title":"Expanding the genetic and phenotypic spectrum of Baker-Gordon syndrome: a new <i>de novo SYT1</i> variant.","authors":"Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Pilar Quijada-Fraile, Francisco Martínez-Azorín","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report the case of a Spanish pediatric patient with developmental delay, hypotonia, feeding difficulties, visual problems, and hyperkinetic movements. Whole-exome sequencing uncovered a new heterozygous <i>de novo</i> Synaptotagmin 1 <i>(SYT1)</i> missense variant, NM_005639.3:c.930T>A (p.Asp310Glu), in a female proband. This gene encodes the synaptotagmin-1 <i>(SYT1)</i> protein, which is a component of a protein complex involved in the fusion of synaptic vesicles with the presynaptic membrane. Pathogenic <i>SYT1</i> variants have been associated with Baker-Gordon syndrome (BAGOS), an autosomal dominant neurodevelopmental disorder. Although up to 30 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with mitochondrial respiratory chain deficiencies and rod-cone dysfunction. In conclusion, our data expand both the genetic and phenotypic spectrum associated with <i>SYT1</i> variants.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"103 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141759168","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
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