The molluscan shell is a composite of inorganic crystals comprising calcium carbonate and a minute amount of organic matrix. The organic matrix (OM) is intimately involved in every step of shell formation and has consequently received much attention in recent years. However, most of the deposited information has resulted from cDNA analysis, with little analysis of the genome, including the presence and effects of polymorphic genes encoding OM proteins. The current study aimed to clarify the genome structure of the N16 gene from the Japanese pearl oyster, Pinctada fucata, with particular reference to polymorphisms. The N16 gene was analyzed using PCR and DNA sequencing. 23 polymorphic variants were identified from 28 individuals. The variants were analyzed for their relationship to shell formation. All the variations detected by genomic PCR appeared in the cDNAs, implying that all the polymorphisms were transcribed and translated into N16 proteins. Additional genome analysis revealed at least two N16 genes, which were sequentially positioned, each of them comprising four exons and three introns. Further analyses of the transcriptional regulation and function of the N16 genes may provide new insights into their role in molluscan biomineralization.
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http://dx.doi.org/10.1016/j.gene.2012.03.066 | DOI Listing |
Genet Med
December 2024
Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:
Commun Med (Lond)
December 2024
University Hospitals Seidman Cancer Center, Cleveland, OH, USA.
Background: Breast and prostate tumors are known to be less responsive to immune checkpoint inhibitors (ICIs). Tissue-based tumor mutation burden (tTMB) has emerged as a predictive biomarker of response to ICIs, including in these "cold tumors". In clinical practice, when tTMB is not available, blood-based TMB score (bTMB) can be used to consider treatment with ICIs.
View Article and Find Full Text PDFBackground: Protein arginine methyltransferase 5 (PRMT5) methylates multiple substrates dysregulated in cancer, including spliceosome machinery components. PF-06939999 is a selective small-molecule PRMT5 inhibitor.
Patients And Methods: This phase I dose-escalation and -expansion trial (NCT03854227) enrolled patients with selected solid tumors.
J Craniofac Surg
March 2024
Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital.
Mol Syndromol
February 2024
Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.
Introduction: Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders. We aimed to share the diagnostic yield of an NGS gene panel containing LGMD-related genes and our experience with LGMD.
Methods: Between February 2019 and October 2022, patients with a suspicion of LGMD and their relatives were reviewed in terms of demographic, clinical, and individual genetic data, age of symptom onset, sex, clinical features, LGMD types, cardiac involvement, muscle biopsy results, family history, and consanguinity.
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