MC4R mutant mice develop ovarian teratomas.

Amino Acid Substitution Animals CRISPR-Cas Systems Female Gene Editing Male Mice Mutation Mutation, Missense Neoplasm Proteins / genetics Oocytes / metabolism Ovarian Neoplasms / genetics Point Mutation Receptor, Melanocortin, Type 4 / genetics Teratoma / genetics Testicular Neoplasms / genetics

Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
10 02 2021
Historique:
received: 28 06 2020
accepted: 19 01 2021
entrez: 11 2 2021
pubmed: 12 2 2021
medline: 9 11 2021
Statut: epublish

Résumé

Teratomas in mice, composed of different tissue types, are derived from primordial germ cells (PGCs) in the foetal gonads. The strongest candidate gene in the testicular teratoma locus (Ter) responsible for testicular teratoma formation was identified as mutation in Dnd1, Dnd1R178*. However, the phenotype of mice with a mutated Dnd1 gene was germ cell loss. This suggests that other genes are involved in teratoma formation. Testicular teratomas can also be induced experimentally (experimentally testicular teratomas: ETTs) in 129/Sv mice by transplanting E12.5 foetal testes into adult testes. Previously, we mapped the ett1 locus, which is the locus responsible for ETT formation on chromosome 18. By exome sequence analysis of the 129 and LTXBJ (LT) strains, we identified a missense mutation in the melanocortin 4 receptor (MC4R) gene among 8 genes in the ett1 region. The missense mutation causes a substitution of glycine 25 by serine. Thus, this gene is a candidate for ETT formation. We established the LT-ett1 congenic strain, which introduced the locus responsible for ETT formation genetically into the genomes of a testicular teratoma non-susceptible strain. In this study, we crossed LT-ett1 and a previously established LT-Ter strain to establish the double congenic strain LT-Ter-ett1. Also, we established a strain with a point mutation in the MC4R gene of the LT strain by genome editing, LT-MC4R

Identifiants

DOI: 10.1038/s41598-021-83001-w PMID: 33568756 PMC: PMC7876032
pubmed: 33568756
doi: 10.1038/s41598-021-83001-w
pii: 10.1038/s41598-021-83001-w
pmc: PMC7876032
doi:

Substances chimiques

Dnd1 protein, mouse 0
MC4R protein, mouse 0
Neoplasm Proteins 0
Receptor, Melanocortin, Type 4 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

3483

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Auteurs

Abdullah An Naser (AA)

Integrated Bioscience Section, Graduate School of Science and Technology, National University Corporation Shizuoka University, Ohya 836, Suruga-ku, Shizuoka, 422-8529, Japan.

Takehiro Miyazaki (T)

Integrated Bioscience Section, Graduate School of Science and Technology, National University Corporation Shizuoka University, Ohya 836, Suruga-ku, Shizuoka, 422-8529, Japan.
Department of Molecular Genetics, Graduate School of Medicine, Kyoto University, Yoshida Konoe, Sakyo, Kyoto, 606-8501, Japan.

Jun Wang (J)

Department of Bioscience, Faculty of Science, Shizuoka University, Shizuoka, 422, Japan.

Shuji Takabayashi (S)

Laboratory Animal Facilities & Services, Preeminent Medical Photonics Education & Research Center, Hamamatsu University School of Medicine, 1-20-1, Handayama, Higashi-ku, Hamamatsu, Shizuoka, 431-3192, Japan.

Theeranukul Pachoensuk (T)

Integrated Bioscience Section, Graduate School of Science and Technology, National University Corporation Shizuoka University, Ohya 836, Suruga-ku, Shizuoka, 422-8529, Japan.

Toshinobu Tokumoto (T)

Integrated Bioscience Section, Graduate School of Science and Technology, National University Corporation Shizuoka University, Ohya 836, Suruga-ku, Shizuoka, 422-8529, Japan. tokumoto.toshinobu@shizuoka.ac.jp.
Department of Bioscience, Faculty of Science, Shizuoka University, Shizuoka, 422, Japan. tokumoto.toshinobu@shizuoka.ac.jp.

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Classifications MeSH

Recherchemedicale.com › Phénomènes génétiques › Mutagenèse › Substitution d'acide aminé › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Eucaryotes › Animaux › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Phénomènes génétiques › Régulation de l'expression des gènes › Épigenèse génétique › Extinction de l'expression des gènes › Systèmes CRISPR-Cas › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Techniques d'investigation › Techniques génétiques › Génie génétique › Édition de gène › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Phénomènes génétiques › Variation génétique › Mutation › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Cellules › Cellules germinales › Ovocytes › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Maladies endocriniennes › Troubles gonadiques › Maladies ovariennes › Tumeurs de l'ovaire › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Phénomènes génétiques › Variation génétique › Mutation › Mutation ponctuelle › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs peptidiques › Récepteur hormone hypophysaire › Récepteur corticotrophine › Récepteurs à la mélanocortine › Récepteur de la mélanocortine de type 4 › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Tumeurs › Tumeurs par type histologique › Tumeurs embryonnaires et germinales › Tératome › MC4R mutant mice develop ovarian teratomas.
Recherchemedicale.com › Maladies endocriniennes › Troubles gonadiques › Maladies testiculaires › Tumeurs du testicule › MC4R mutant mice develop ovarian teratomas.