Ann Dermatol.  2017 Oct;29(5):597-601. 10.5021/ad.2017.29.5.597.

Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient

• Kim YJ
• Yoon B
• Han K
• Park BC

• KMID: 2388911
• DOI: http://doi.org/10.5021/ad.2017.29.5.597

Abstract

BACKGROUND
Trichorhinophalangeal syndrome (TRPS) patients tend to have alopecia that appears to be androgenetic, and this genetic model might give clues to the pathogenesis of hair loss or hair morphogenesis.
OBJECTIVE
This study was conducted to identify additional genetic evidence of TRPS and hair morphogenesis from a TRPS patient.
METHODS
From one TRPS type I patient, we extracted RNA and profiled whole transcriptome in non-balding and balding scalp areas using high-throughput RNA sequencing.
RESULTS
We found a total of 26,320 genes, which comprised 14,892 known genes with new isoforms and 4,883 novel genes from the non-balding and balding areas. Among these, a total of 1,242 genes showed different expression in the two scalp areas (p<0.05 and log2 fold-change >0). Several genes related to the skin and hair, alopecia, and the TRPS1 gene were validated by qRT-PCR. Twelve of 15 genes (KRT6C, KRTAP3-1, MKI67, GPRC5D, TYRP1, DSC1, PMEL, WIF1, SOX21, TINAG, PTGDS, and TRPS1) were down-regulated (10 genes: p<0.01; SOX21 and PTGDS: p>0.05), and the three other genes (HBA2, GAL, and DES) were up-regulated (p<0.01) in the balding scalp. Many genes related to keratin and hair development were down-regulated in the balding scalp of the TRPS type I patient. In particular, the TRPS1 gene might be related to androgen metabolism and hair morphogenesis.
CONCLUSION
Our result could suggest a novel perspective and evidence to support further study of TRPS and hair morphogenesis.

Keyword

Androgenetic alopecia; Differentially expressed gene; Transcriptome; Trichorhinophalangeal syndrome; TRPS1

MeSH Terms

Alopecia
Gene Expression Profiling*
Hair
High-Throughput Nucleotide Sequencing
Humans
Metabolism
Models, Genetic
Morphogenesis
Protein Isoforms
RNA
Scalp*
Skin
Transcriptome*
Protein Isoforms
RNA

Figure

• 

  Fig. 1 Heat map of differently expressed genes in the non-balding and balding scalp samples. A total of 1,242 differentially expressed genes (DEGs) were identified through RNA sequencing (p-value <0.01 and log2 fold-change >0). The left and right columns display, respectively, the results for the non-balding and balding scalp areas. Up-regulated to down-regulated genes are indicated by red and yellow, respectively.

• 

  Fig. 2 Validation of 15 differentially expressed genes by quantitative real-time polymerase chain reaction. Three genes were up-regulated (green bar) and 12 were down-regulated (blue bar) in the non-balding scalp. Thirteen genes showed statistical significance (p-value<0.05); the exceptions were SOX21 and PTGDS. (**p<0.01, and ***p<0.001).

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