Thyroid dysplasia in C57BL/6NTac caused by a LINE-1 in Thyroglobulin
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ABSTRACT:
PROVIDER: PRJNA1268983 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| Other | ||||
| SRR33732504_1.fastq.gz | Fastqsanger.gz | |||
| SRR33732504_2.fastq.gz | Fastqsanger.gz | |||
| SRR33732505_1.fastq.gz | Fastqsanger.gz | |||
| SRR33732505_2.fastq.gz | Fastqsanger.gz |
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Project description:A spontaneous mutation in the Taconic Biosciences wildtype C57BL/6NTac mouse was discovered that is associated with early-onset histopathologic sequalae typical of thyroid dysplasia. The spontaneous mutation resulted from insertion of a L1 long interspersed nuclear element (LINE-1) into an intron within the Thyroglobulin (Tg) gene. The mouse genome contains a significant amount of retrotransposon DNA, and these mobile genetic elements routinely change genomic location through retrotransposition, including in germ cells. Analysis of the thyroid transcriptome suggested that the presence of the LINE-1 interferes with the Tg gene splicing, resulting in exclusion of exon 26 from most Tg transcripts in animals homozygous for the insertion. The LINE-1 insertion allele of the Tg gene has been designated Tgtdys-Tac. The resulting phenotype is inherited in an autosomal dominant manner with affected mice exhibiting thyroid follicular cell dysplasia that progresses to thyroid adenoma by 9 months of age with complete penetrance in homozygotes. Serum thyroid hormone measurements revealed a decrease in triiodothyronine (T3) levels in homozygotes at 9 months and 12 months of age, as well as a decrease in tetraiodothyronine (T4) levels at 6-9 months in homozygotes and at 12 months of age in both heterozygotes and homozygotes. In addition, serum Thyroid Stimulating Hormone (TSH) level was strongly increased in homozygotes at 6-8 months of age, consistent with hypothyroidism. Computational molecular modeling showed that omission of the 61 amino acids from the TG protein arm domain, which is the consequence of exon 26-skipping in the Tg transcript, results in decreased local stability. This result in combination with the observed up-regulation in unfolded protein response pathways in the thyroids of affected animals, identifies the arm domain of TG as important for its proper cellular distribution. This report describes a spontaneous retrotransposon insertion causatively linked to dysregulated physiological phenotypes in a widely used inbred mouse strain.
2025-05-31 | GSE298337 | GEO
Project description:This project aims to explore the protein interaction network of thyroid cancer cell lines through a robotics platform combined with proteomic techniques. The primary method involves using CF-DIA-MS (Co-fractionation Data-Independent Acquisition Mass Spectrometry) to acquire data from three different thyroid cell lines. These cell lines are chosen to represent various stages or subtypes of thyroid cancer, providing a comprehensive view of the co-eluted protein changes associated with disease progression. The proteomics data obtained will be invaluable for understanding the protein interactions underlying thyroid cancer and for identifying potential biomarkers for diagnostic or therapeutic purposes.
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Project description:RNAseq comparison of the J and N (Taconic) substrains of C57BL/6 reveals substantial differences in endogenous Murine Leukemia Virus expression
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Project description:We have compared the transcriptional profiles from two epithelial cell types to find genes specifically expressed in thymic medullary epithelial cells. Epithelial cells from thyroid and thymic medulla from C57BL/6 mice were sorted and their transcriptional profiles compared. Cells were gated as viable, Epcam+ CD45- for thyroid and viable, Epcam+ CD45- UEA+ for thymic medulla.
2018-05-01 | GSE71243 | GEO
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| S-EPMC3863492 | biostudies-literature
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Project description:Background: Sex and age have substantial influence on thyroid function. Sex influences the risk and clinical expression of thyroid disorders (TDs), with age a proposed trigger for the development of TDs. Cardiac function is affected by thyroid hormone levels with gender differences. Accordingly, we investigated the proteomic changes involved in sex based cardiac responses to thyroid dysfunction in elderly mice. Methods: Aged (18-20 months) male and female C57BL/6 mice were fed diets to create euthyroid, hypothyroid, or hyperthyroid states. Serial echocardiographs were performed to assess heart function. Proteomic changes in cardiac protein profiles were assessed by 2-D DIGE and LC-MS/MS, and a subset confirmed by immunoblotting. Results: Serial echocardiographs showed ventricular function remained unchanged regardless of treatment. Heart rate and size increased (hyperthyroid) or decreased (hypothyroid) independent of sex. Pairwise comparison between the six groups identified 55 proteins (≥ 1.5-fold difference and p < 0.1). Compared to same-sex controls 26/55 protein changes were in the female hypothyroid heart, whereas 15/55 protein changes were identified in the male hypothyroid, and male and female hyperthyroid heart. The proteins mapped to oxidative phosphorylation, tissue remodeling and inflammatory response pathways. Conclusion: We identified both predicted and novel proteins with gender specific differential expression in response to thyroid hormone status, providing a catalogue of proteins associated with thyroid dysfunction. Pursuit of these proteins and their involvement in cardiac function will expand our understanding of mechanisms involved in sex-based cardiac response to thyroid dysfunction.
2020-12-23 | PXD022557 | Pride
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| S-EPMC12237065 | biostudies-literature
Project description:Congenital hypothyroidism from thyroid dysgenesis (CHTD) is a sporadic disease characterized by defects in the differentiation, migration or growth of thyroid tissue. Of these defects, incomplete migration resulting in ectopic thyroid tissue is the most common (up to 80%). We obtained flashfrozen samples of ectopic thyroid tissue removed from 3 girls aged 8, 10 and 15 yr, because it caused local symptoms. For comparison, we used orthotopic thyroid tissue from a Caucasian female, age 68 with gall bladder cancer. Analysis of transcriptome revealed up to 1011 genes more than twofold induced or repressed.
2010-10-28 | GSE16804 | GEO
Project description:Congenital hypothyroidism from thyroid dysgenesis (CHTD) is a sporadic disease characterized by defects in the differentiation, migration or growth of thyroid tissue. Of these defects, incomplete migration resulting in ectopic thyroid tissue is the most common (up to 80%). We obtained flashfrozen samples of ectopic thyroid tissue removed from 3 girls aged 8, 10 and 15 yr, because it caused local symptoms. For comparison, we used orthotopic thyroid tissue from a Caucasian female, age 68 with gall bladder cancer. Analysis of transcriptome revealed up to 1011 genes more than twofold induced or repressed. Microarray hybridization was performed on three independent pairs of ectopic thyroids (one pair performed in duplicate) compared to control thyroid tissue. After amplification and labelling, sample pairs were hybridized onto Human Exonic Evidence Based Oligonucleotide HEEBO slides (Stanford Functional Genomics Facility, CA). The oligonucleotide set consists of 44544 70-mer probes that were designed using a transcriptome-based annotation of exonic structure for genomic loci. Hybridizations were replicated with dye swap.
2010-10-28 | E-GEOD-16804 | biostudies-arrayexpress