Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a
Abstract Background Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this disease. In our preliminary study, three unknown mutation sites (c.878 T &...
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| Format: | Article |
| Language: | English |
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BMC
2018-12-01
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| Series: | BMC Medical Genetics |
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| Online Access: | http://link.springer.com/article/10.1186/s12881-018-0726-2 |
| _version_ | 1818351819885117440 |
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| author | Fangqi He Hongfeng Wang Xiaoyu Zhang Qingping Gao Feng Guo Chang Chen |
| author_facet | Fangqi He Hongfeng Wang Xiaoyu Zhang Qingping Gao Feng Guo Chang Chen |
| author_sort | Fangqi He |
| collection | DOAJ |
| description | Abstract Background Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this disease. In our preliminary study, three unknown mutation sites (c.878 T > G, c.663-697del and c.587-615del) were detected from the pedigrees of HED. Methods Conservation analysis of the related homologous proteins in 3 unknown EDA gene mutation sites was conducted using the University of California Santa Cruz (UCSC) Genome Browser database. SIFT and PolyPhen-2, the online gene function prediction software, were utilized to predict the pathogenicity of point mutation of c.878 T > G. Results All three unknown mutation sites were located in the highly-conserved region of EDA and possessed strong amino acid conservation among different species. In addition, the results of the pathogenicity prediction of point mutation of c.878 T > G by SIFT (P = 0.00) and PolyPhen-2 (S = 0.997) demonstrated that the mutation site had considerable pathogenicity theoretically. Conclusions The EDA mutations of c.878 T > G, c.663-697del and c.587-615del may be responsible for the pathogenesis of HED in their pedigrees. |
| first_indexed | 2024-12-13T18:43:48Z |
| format | Article |
| id | doaj.art-4eddb4418106429da3f0eeeaf1bc87eb |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-13T18:43:48Z |
| publishDate | 2018-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-4eddb4418106429da3f0eeeaf1bc87eb2022-12-21T23:35:08ZengBMCBMC Medical Genetics1471-23502018-12-011911710.1186/s12881-018-0726-2Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin aFangqi He0Hongfeng Wang1Xiaoyu Zhang2Qingping Gao3Feng Guo4Chang Chen5Department of Prosthodontics, Xiangya Hospital, Central South UniversityDepartment of Prosthodontics, Xiangya Hospital, Central South UniversityDepartment of Prosthodontics, Xiangya Hospital, Central South UniversityDepartment of Prosthodontics, Xiangya Hospital, Central South UniversityDepartment of Prosthodontics, Xiangya Hospital, Central South UniversityDepartment of Prosthodontics, Changsha Stomatological HospitalAbstract Background Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this disease. In our preliminary study, three unknown mutation sites (c.878 T > G, c.663-697del and c.587-615del) were detected from the pedigrees of HED. Methods Conservation analysis of the related homologous proteins in 3 unknown EDA gene mutation sites was conducted using the University of California Santa Cruz (UCSC) Genome Browser database. SIFT and PolyPhen-2, the online gene function prediction software, were utilized to predict the pathogenicity of point mutation of c.878 T > G. Results All three unknown mutation sites were located in the highly-conserved region of EDA and possessed strong amino acid conservation among different species. In addition, the results of the pathogenicity prediction of point mutation of c.878 T > G by SIFT (P = 0.00) and PolyPhen-2 (S = 0.997) demonstrated that the mutation site had considerable pathogenicity theoretically. Conclusions The EDA mutations of c.878 T > G, c.663-697del and c.587-615del may be responsible for the pathogenesis of HED in their pedigrees.http://link.springer.com/article/10.1186/s12881-018-0726-2Hypohidrotic ectodermal dysplasiaEctodysplasin a geneGene mutationRelated homologous proteinsConservationPathogenicity |
| spellingShingle | Fangqi He Hongfeng Wang Xiaoyu Zhang Qingping Gao Feng Guo Chang Chen Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a BMC Medical Genetics Hypohidrotic ectodermal dysplasia Ectodysplasin a gene Gene mutation Related homologous proteins Conservation Pathogenicity |
| title | Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a |
| title_full | Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a |
| title_fullStr | Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a |
| title_full_unstemmed | Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a |
| title_short | Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a |
| title_sort | conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a |
| topic | Hypohidrotic ectodermal dysplasia Ectodysplasin a gene Gene mutation Related homologous proteins Conservation Pathogenicity |
| url | http://link.springer.com/article/10.1186/s12881-018-0726-2 |
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