Transcriptome sequencing of facial adipose tissue reveals alterations in mRNAs of hemifacial microsomia
Hemifacial microsomia (HFM) is a common congenital malformation of the craniofacial region, including mandibular hypoplasia, microtia, facial palsy and soft tissue deficiencies. However, it remains unclear which specific genes are involved in the pathogenesis of HFM. By identifying differentially ex...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2023-02-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1099841/full |
| _version_ | 1811165343938248704 |
|---|---|
| author | Bingyang Liu Wei Liu Shanbaga Zhao Lunkun Ma Tianying Zang Changjin Huang Kaiyi Shu Hengbin Gao Xiaojun Tang |
| author_facet | Bingyang Liu Wei Liu Shanbaga Zhao Lunkun Ma Tianying Zang Changjin Huang Kaiyi Shu Hengbin Gao Xiaojun Tang |
| author_sort | Bingyang Liu |
| collection | DOAJ |
| description | Hemifacial microsomia (HFM) is a common congenital malformation of the craniofacial region, including mandibular hypoplasia, microtia, facial palsy and soft tissue deficiencies. However, it remains unclear which specific genes are involved in the pathogenesis of HFM. By identifying differentially expressed genes (DEGs) in deficient facial adipose tissue from HFM patients, we hope to provide a new insight into disease mechanisms from the transcriptome perspective. RNA sequencing (RNA-Seq) was performed with 10 facial adipose tissues from patients of HFM and healthy controls. Differentially expressed genes in HFM were validated by quantitative real-time PCR (qPCR). Functional annotations of the DEGs were analyzed with DESeq2 R package (1.20.0). A total of 1,244 genes were identified as DEGs between HFM patients and matched controls. Bioinformatic analysis predicted that the increased expression of HOXB2 and HAND2 were associated with facial deformity of HFM. Knockdown and overexpression of HOXB2 were achieved with lentiviral vectors. Cell proliferation, migration, and invasion assay was performed with adipose-derived stem cells (ADSC) to confirm the phenotype of HOXB2. We also found that PI3K−Akt signaling pathway and human papillomavirus infection were activated in HFM. In conclusion, we discovered potential genes, pathways and networks in HFM facial adipose tissue, which contributes to a better understanding of the pathogenesis of HFM. |
| first_indexed | 2024-04-10T15:35:43Z |
| format | Article |
| id | doaj.art-83fb0d8186b0420bbdfb664e4e1cbbf0 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-10T15:35:43Z |
| publishDate | 2023-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-83fb0d8186b0420bbdfb664e4e1cbbf02023-02-13T06:47:58ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-02-011110.3389/fped.2023.10998411099841Transcriptome sequencing of facial adipose tissue reveals alterations in mRNAs of hemifacial microsomiaBingyang Liu0Wei Liu1Shanbaga Zhao2Lunkun Ma3Tianying Zang4Changjin Huang5Kaiyi Shu6Hengbin Gao7Xiaojun Tang8Department of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaDepartment of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaState Key Laboratory of Crop Biology, College of Life Sciences, Shandong Agricultural University, Tai’an, ChinaDepartment of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, ChinaHemifacial microsomia (HFM) is a common congenital malformation of the craniofacial region, including mandibular hypoplasia, microtia, facial palsy and soft tissue deficiencies. However, it remains unclear which specific genes are involved in the pathogenesis of HFM. By identifying differentially expressed genes (DEGs) in deficient facial adipose tissue from HFM patients, we hope to provide a new insight into disease mechanisms from the transcriptome perspective. RNA sequencing (RNA-Seq) was performed with 10 facial adipose tissues from patients of HFM and healthy controls. Differentially expressed genes in HFM were validated by quantitative real-time PCR (qPCR). Functional annotations of the DEGs were analyzed with DESeq2 R package (1.20.0). A total of 1,244 genes were identified as DEGs between HFM patients and matched controls. Bioinformatic analysis predicted that the increased expression of HOXB2 and HAND2 were associated with facial deformity of HFM. Knockdown and overexpression of HOXB2 were achieved with lentiviral vectors. Cell proliferation, migration, and invasion assay was performed with adipose-derived stem cells (ADSC) to confirm the phenotype of HOXB2. We also found that PI3K−Akt signaling pathway and human papillomavirus infection were activated in HFM. In conclusion, we discovered potential genes, pathways and networks in HFM facial adipose tissue, which contributes to a better understanding of the pathogenesis of HFM.https://www.frontiersin.org/articles/10.3389/fped.2023.1099841/fullhemifacial microsomiaHAND2HOXB2facial adipose tissueRNA sequencing |
| spellingShingle | Bingyang Liu Wei Liu Shanbaga Zhao Lunkun Ma Tianying Zang Changjin Huang Kaiyi Shu Hengbin Gao Xiaojun Tang Transcriptome sequencing of facial adipose tissue reveals alterations in mRNAs of hemifacial microsomia Frontiers in Pediatrics hemifacial microsomia HAND2 HOXB2 facial adipose tissue RNA sequencing |
| title | Transcriptome sequencing of facial adipose tissue reveals alterations in mRNAs of hemifacial microsomia |
| title_full | Transcriptome sequencing of facial adipose tissue reveals alterations in mRNAs of hemifacial microsomia |
| title_fullStr | Transcriptome sequencing of facial adipose tissue reveals alterations in mRNAs of hemifacial microsomia |
| title_full_unstemmed | Transcriptome sequencing of facial adipose tissue reveals alterations in mRNAs of hemifacial microsomia |
| title_short | Transcriptome sequencing of facial adipose tissue reveals alterations in mRNAs of hemifacial microsomia |
| title_sort | transcriptome sequencing of facial adipose tissue reveals alterations in mrnas of hemifacial microsomia |
| topic | hemifacial microsomia HAND2 HOXB2 facial adipose tissue RNA sequencing |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1099841/full |
| work_keys_str_mv | AT bingyangliu transcriptomesequencingoffacialadiposetissuerevealsalterationsinmrnasofhemifacialmicrosomia AT weiliu transcriptomesequencingoffacialadiposetissuerevealsalterationsinmrnasofhemifacialmicrosomia AT shanbagazhao transcriptomesequencingoffacialadiposetissuerevealsalterationsinmrnasofhemifacialmicrosomia AT lunkunma transcriptomesequencingoffacialadiposetissuerevealsalterationsinmrnasofhemifacialmicrosomia AT tianyingzang transcriptomesequencingoffacialadiposetissuerevealsalterationsinmrnasofhemifacialmicrosomia AT changjinhuang transcriptomesequencingoffacialadiposetissuerevealsalterationsinmrnasofhemifacialmicrosomia AT kaiyishu transcriptomesequencingoffacialadiposetissuerevealsalterationsinmrnasofhemifacialmicrosomia AT hengbingao transcriptomesequencingoffacialadiposetissuerevealsalterationsinmrnasofhemifacialmicrosomia AT xiaojuntang transcriptomesequencingoffacialadiposetissuerevealsalterationsinmrnasofhemifacialmicrosomia |