Transcriptomic analysis of mRNA expression in giant congenital melanocytic nevi

Cheng, Xialin; He, Yan; Bao, Wu; Zhang, Zexin; Chen, Lingxi; Song, Ge; Lan, Junhong; Xu, Fangfang; Jia, Chiyu; Dai, Tao

doi:10.1016/j.gene.2022.146894

Cited by 1 publication

(1 citation statement)

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“…Additionally, a whole-exome sequencing (WES) of two GCMN patients identi ed MUC16, ABCA1, and MAP3K15 as potential critical genes closely associated with the development of GCMN [6] . Moreover, as evidenced by the work of Cheng et al, PTGS2, EGF, and SOX10 were identi ed as the hub genes by RNA-seq [7] . Despite these advancements, the question of whether there are distinct patterns of gene expression across different anatomical locations of GCMN remains unknown.…”

Section: Introductionmentioning

confidence: 88%

Transcriptomic analysis of giant congenital melanocytic nevi across different anatomic sites

Zhou,

Xu,

Chen

et al. 2024

Preprint

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Background: Giant congenital melanocytic nevus (GCMN) is a skin disorder characterized by extensive abnormal proliferation and migration of melanocytes, which has the potential to be malignantly transformed into melanoma. Most studies have focused on revealing somatic mutation in GCMN. However, the specific alterations in gene expression across different anatomic sites of GCMN remain ambiguous. Methods: A total of 18 GCMNs including eight from the trunk, six from the head, and four from the extremities, as well as eight normal skin tissues were collected for transcriptome sequencing. Differential expression gene (DEG) analysis and a series of bioinformatics analyses were employed to explore the distinct expression pattern and involved pathways among different anatomic sites of GCMN. Results: A total of 258 (head), 1,472 (trunk), and 185 (extremities) site-specific DEGs were identified respectively, with a total of 368 up-regulated and 312 down-regulated DEGs in three tissues. Among them, ALB, CNTN2, GLI1, POU5F1 and CACNA1Dwere identified as core genes in head, as well as ERBB2, PPARA, VEGFA, FOSand IL1B in trunk, PRF1, STAT1, CXCR4, CD8A and CXCL8 in extremities, and SOX10, TYR, GRIN1, GRIA1 and PLP1 in all three tissues. Conclusion: This study mined the specific and common DEGs in the head, trunk, and extremities of GCMN and systematically explored the possible mechanism of action of these genes based on transcriptome sequencing data, which could provide insights for the research of GCMN and afford new therapeutic targets for GCMN patients.

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Section: Introductionmentioning

confidence: 88%