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.EGA study EGAS00001007488

肾上腺皮质细胞在个体一生中持续更新，因此该细胞群与肾上腺皮质肿瘤的关联研究备受学界关注。本研究对人类肾上腺开展单细胞转录组测序，旨在鉴定肾上腺皮质中罕见的细胞亚群、细胞更新动态及克隆扩增特征。该受试者的肾上腺存在一处突变克隆，其携带8号、9号、13号与22号染色体的非整倍体变异，并分布于肾上腺皮质的球状带与束状带区域。对该突变细胞的差异表达分析显示，MC2R（促肾上腺皮质激素受体，adrenocorticotropic hormone receptor）、CYP21A2及HSD3B2基因（编码参与皮质醇合成的酶类）表达上调。总体而言，该供体样本属于携带染色体重排的克隆性组织扩增案例，此类重排可能影响器官形态与功能，但表观上呈现良性特征。EGA研究 EGAS00001007488