2017 Fiscal Year Final Research Report
Elucidation of novel pathomechanisms due to defects in remote enhancers and chromatin domain TADs in genodermatosis
| Project/Area Number |
16K15547
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Dermatology
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| Research Institution | Nagoya University |
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Principal Investigator |
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| Project Period (FY) |
2016-04-01 – 2018-03-31
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| Keywords | 皮膚科学 / 臨床遺伝学 / 遺伝学 / 先天性角化異常症 / ゲノム構造 |
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| Outline of Final Research Achievements |
We performed whole-exome sequencing in 4 harlequin ichthyosis patients with only heterozygous ABCA12 mutations which was elucidated by Sanger sequencing. We found the other causative ABCA12 mutations in 3 cases, but did not detect any ABCA12 mutation in the other patient. We analyzed the genome structure by sequencing of genomic DNA flanking ABCA12 (approximately 5M bases), including ABCA12 topologically associating domain. However, no causative abnormalities were detected in the ABCA12 topologically associating domain. Furthermore, we investigated the chromatin modification of putative ABCA12 expression-associated regions. But, we detected no significant finding in genomic DNA from the family. We also studied the three-dimensional structure of the putative ABCA12 expression-associated genome regions using HI-C data bases. However, no causative aberrant three-dimensional genome structures were obtained in genomic DNA from the patient and the family members.
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| Free Research Field |
医歯薬学
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