Germline and somatic mutations in the pathology of pineal cyst: A whole‐exome sequencing study of 93 individuals
| Autor: | Zhen Xu, Yuanqing Yan, Yanning Rui, Maria N Rasheed, John P. Hagan, Rebecca Martinez, Dong H Kim, Krista J. Qualmann, Joshua Cahal |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male 0301 basic medicine Heterozygote Adolescent Somatic cell pineal cyst 030105 genetics & heredity Biology QH426-470 Pineal Gland Germline whole exome sequencing 03 medical and health sciences Ribonucleases Germline mutation GTP-Binding Protein gamma Subunits Exome Sequencing Gene expression Genetics Humans somatic mutation Epigenetics Stromal Interaction Molecule 2 Molecular Biology Gene Germ-Line Mutation Genetics (clinical) Exome sequencing Cysts Homozygote Original Articles Middle Aged Genetic architecture Phenotype 030104 developmental biology Ribonucleoproteins germline mutation Female Original Article |
| Zdroj: | Molecular Genetics & Genomic Medicine, Vol 9, Iss 6, Pp n/a-n/a (2021) Molecular Genetics & Genomic Medicine |
| ISSN: | 2324-9269 0010-0471 |
| Popis: | Background Pineal cyst is a benign lesion commonly occurring in people of any age. Until now, the underlying molecular alterations have not been explored. Methods We performed whole exome sequencing of 93 germline samples and 21 pineal cyst tissue samples to illustrate its genetic architecture and somatic mutations. The dominant and recessive inheritance modes were considered, and a probability was calculated to evaluate the significance of variant overrepresentation. Results By analyzing pineal cyst as a Mendelian disease with a dominant inheritance pattern, we identified 42,325 rare germline variants, and NM_001004711.1:c.476A>G was highly enriched (FDRT, was overrepresented (FDR Whole exome sequencing of 93 germline samples and 21 pineal cyst tissue samples was performed to study the molecular mechanism of pineal cysts. A list of overrepresented germline genetic variants and somatic mutations were identified for future validation. |
| Databáze: | OpenAIRE |
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