Single cell transcriptomics of human adrenal gland reveal chromosomal alterations in adrenocortical cells
Adrenocortical cells get replenished throughout our lifetime and as such they are a cellular population of high interest in relation to adrenocortical tumours. Single cell transcriptomics of human adrenal gland were performed to identify rare subpopulations of cells, dynamics of cellular turnover and clone expansions in the adrenal cortex. The adrenal gland of this particular individual is characterized by the presence of mutant clone charecterized by aneuploidy in chromosomes 8, 9, 13 and 22, occupying the zona glomerulosa and zona fasciculata. Differential expression analysis of the mutant cells revealed upregulation of MC2R (adrenocorticotropic hormone receptor), CYP21A2, HSD3B2 genes (enzymes involved in cortisol production). Overall, this donor sample is an example of clonal tissue expansions carrying chromosomal rearrangements that likely impact organ morphology and function but are seemingly benign.
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
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EGAD00001011288 | Illumina HiSeq 4000 | 1 | |
EGAD50000000394 | Illumina HiSeq 4000 NextSeq 2000 | 14 |
Publications | Citations |
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A pan-tissue survey of mosaic chromosomal alterations in 948 individuals.
Nat Genet 55: 2023 1901-1911 |
4 |