Identification of suitable qPCR reference genes for the normalization of gene expression in the BL10-mdx and D2-mdx mouse models of Duchenne muscular dystrophy

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গ্রন্থ-পঞ্জীর বিবরন
প্রকাশিত:PLoS One vol. 20, no. 2 (Feb 2025), p. e0318944
প্রধান লেখক: Putker, Kayleigh
অন্যান্য লেখক: Schneider, Anne-Fleur, Davy Van De Vijver, Hildyard, John, Aartsma-Rus, Annemieke, Maaike van Putten
প্রকাশিত:
Public Library of Science
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অনলাইন ব্যবহার করুন:Citation/Abstract
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100 1 |a Putker, Kayleigh 
245 1 |a Identification of suitable qPCR reference genes for the normalization of gene expression in the BL10-<i>mdx</i> and D2-<i>mdx</i> mouse models of Duchenne muscular dystrophy 
260 |b Public Library of Science  |c Feb 2025 
513 |a Journal Article 
520 3 |a Duchenne muscular dystrophy (DMD) is an X-linked disorder that is caused by mutations in the DMD gene, leading to progressive muscle wasting and weakness. There is currently no cure for DMD. The BL10-mdx mouse is the most commonly used model in preclinical DMD studies, but it exhibits a mild disease phenotype compared to DMD patients, limiting research translatability. The newer D2-mdx mouse has a more severe phenotype at an early age and may better recapitulate human disease. To compare these mouse models on a transcriptional level with quantitative RT-PCR, stable and reliable reference genes are indispensable. We aimed to evaluate the stability and reliability of a panel of nine candidate reference genes (Actb, Ap3d1, Gapdh, Hmbs, Htatsf1, Pak1ip1, Rpl13a, Sdha and Zfp91) in the gastrocnemius, diaphragm and heart of mice from both strains and their corresponding wild types aged 4 to 52 weeks. Data was analyzed using geNorm, BestKeeper, deltaCt and NormFinder. We found that Htatsf1, Pak1ip1 and Zfp91 are suitable reference genes for normalization of gene expression in dystrophic and healthy mice, regardless of the tissue type or age. In our hands, Actb, Gapdh and Rpl13a were not suitable as reference genes, exhibiting tissue-, age-, or disease specific changes in expression. This study highlights the importance of the selection of suitable reference genes, as their stability can differ between specific experimental setups. 
610 4 |a Leiden University 
651 4 |a United Kingdom--UK 
651 4 |a United States--US 
653 |a Glycoproteins 
653 |a Genes 
653 |a Mutation 
653 |a Muscular dystrophy 
653 |a Phenotypes 
653 |a Extracellular matrix 
653 |a Age 
653 |a Pathology 
653 |a Animal models 
653 |a Genotype & phenotype 
653 |a Gene expression 
653 |a Dystrophy 
653 |a Glyceraldehyde-3-phosphate dehydrogenase 
653 |a Diaphragm (anatomy) 
653 |a Stability 
653 |a Dystrophin 
653 |a Heart 
653 |a Muscle function 
653 |a Diaphragm 
653 |a Males 
653 |a Duchenne's muscular dystrophy 
653 |a Environmental 
700 1 |a Schneider, Anne-Fleur 
700 1 |a Davy Van De Vijver 
700 1 |a Hildyard, John 
700 1 |a Aartsma-Rus, Annemieke 
700 1 |a Maaike van Putten 
773 0 |t PLoS One  |g vol. 20, no. 2 (Feb 2025), p. e0318944 
786 0 |d ProQuest  |t Health & Medical Collection 
856 4 1 |3 Citation/Abstract  |u https://www.proquest.com/docview/3171259640/abstract/embedded/7BTGNMKEMPT1V9Z2?source=fedsrch 
856 4 0 |3 Full Text  |u https://www.proquest.com/docview/3171259640/fulltext/embedded/7BTGNMKEMPT1V9Z2?source=fedsrch 
856 4 0 |3 Full Text - PDF  |u https://www.proquest.com/docview/3171259640/fulltextPDF/embedded/7BTGNMKEMPT1V9Z2?source=fedsrch