論文 - 詳細
| RRC ID | 61102 |
|---|---|
| 著者 | Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, Velasco G, Francastel C, Picard C, Kubota T, Sasaki H. |
| タイトル | Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients. |
| ジャーナル | J Hum Genet |
| Abstract |
Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder that shows DNA hypomethylation at pericentromeric satellite-2 and -3 repeats in chromosomes 1, 9 and 16. ICF syndrome is classified into two groups: type 1 (ICF1) patients have mutations in the DNMT3B gene and about half of type 2 (ICF2) patients have mutations in the ZBTB24 gene. Besides satellite-2 and -3 repeats, α-satellite repeats are also hypomethylated in ICF2. In this study, we report three novel ZBTB24 mutations in ICF2. A Japanese patient was homozygous for a missense mutation (C383Y), and a Cape Verdean patient was compound heterozygous for a nonsense mutation (K263X) and a frame-shift mutation (C327W fsX54). In addition, the second Japanese patient was homozygous for a previously reported nonsense mutation (R320X). The C383Y mutation abolished a C2H2 motif in one of the eight zinc-finger domains, and the other three mutations caused a complete or large loss of the zinc-finger domains. Our immunofluorescence analysis revealed that mouse Zbtb24 proteins possessing a mutation corresponding to either C383Y or R320X are mislocalized from pericentrometic heterochromatin, suggesting the importance of the zinc-finger domains in proper intranuclear localization of this protein. We further revealed that the proper localization of wild-type Zbtb24 protein does not require DNA methylation. |
| 巻・号 | 58(7) |
| ページ | 455-60 |
| 公開日 | 2013-7-1 |
| DOI | 10.1038/jhg.2013.56 |
| PII | jhg201356 |
| PMID | 23739126 |
| MeSH | Adolescent Adult Animals Asian People / genetics* Black People / genetics* Cell Line Centromere / metabolism Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 1 / genetics Chromosomes, Human, Pair 1 / metabolism Chromosomes, Human, Pair 16 / genetics Cloning, Molecular DNA Methylation Face / abnormalities* Female Genomics Humans Immunologic Deficiency Syndromes / diagnosis Immunologic Deficiency Syndromes / genetics* Male Mice Mutation NIH 3T3 Cells Primary Immunodeficiency Diseases Recombinant Fusion Proteins / genetics Repressor Proteins / genetics* Sequence Analysis Zinc Fingers / genetics |
| IF | 2.831 |
| オルトメトリクス指標 |
オルトメトリクス指標項目
|
| 最多言及媒体 | |
| 各媒体での言及数の合計 | 1 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| 遺伝子材料 | EGFP-ZBTB24 WT (mouse) (RDB18170) EGFP-ZBTB24 WT (human) (RDB18184) |