| RRC ID |
81292
|
| 著者 |
Yamamoto-Shimojima K, Osawa M, Saito MK, Yamamoto T.
|
| タイトル |
Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation.
|
| ジャーナル |
Congenit Anom (Kyoto)
|
| Abstract |
Large deletions in Xq22 are responsible for neurodevelopmental disorders, including severe intellectual disability and behavioral abnormalities. Although the deletion regions contain PLP1, the gene related to Pelizaeus-Merzbacher disease (PMD), patients with Xq22 deletions show no clinical features of PMD such as paraplegia and white matter abnormalities. This could be due to skewed X-chromosome inactivation (XCI) occurring predominantly in the affected allele. Isogenic pairs of wild type and mutant induced pluripotent stem cells (iPSCs) were established from the patient. In the iPSC line in which the wild type allele was inactivated, PLP1 was not expressed, but biallelic expression of BEX2 was identified. This suggests that BEX2 escaped from XCI and haploinsufficiency of BEX2 may be related to the phenotype of Xq22 deletions.
|
| 巻・号 |
61(2)
|
| ページ |
63-67
|
| 公開日 |
2021-3-1
|
| DOI |
10.1111/cga.12403
|
| PMID |
33244819
|
| MeSH |
Alleles
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Female
Genetic Association Studies
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism*
Nerve Tissue Proteins / genetics*
Phenotype
Reverse Transcriptase Polymerase Chain Reaction
X Chromosome Inactivation*
|
| IF |
1.761
|
| リソース情報 |
| ヒト・動物細胞 |
201B7(HPS0063) |
