دورية أكاديمية
The Cytogenomic 'Theory of Everything': Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging
| العنوان: | The Cytogenomic 'Theory of Everything': Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging |
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| المؤلفون: | Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov, Maria A. Zelenova, Oxana S. Kurinnaia, Kirill S. Vasin, Sergei I. Kutsev |
| المصدر: | International Journal of Molecular Sciences, Vol 21, Iss 21, p 8328 (2020) |
| بيانات النشر: | MDPI AG, 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | chromosome, copy number variations, chromosome instability, chromosomal mosaicism, chromosomal imbalances, aneuploidy, Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | Mechanisms for somatic chromosomal mosaicism (SCM) and chromosomal instability (CIN) are not completely understood. During molecular karyotyping and bioinformatic analyses of children with neurodevelopmental disorders and congenital malformations (n = 612), we observed colocalization of regular chromosomal imbalances or copy number variations (CNV) with mosaic ones (n = 47 or 7.7%). Analyzing molecular karyotyping data and pathways affected by CNV burdens, we proposed a mechanism for SCM/CIN, which had been designated as “chromohelkosis” (from the Greek words chromosome ulceration/open wound). Briefly, structural chromosomal imbalances are likely to cause local instability (“wreckage”) at the breakpoints, which results either in partial/whole chromosome loss (e.g., aneuploidy) or elongation of duplicated regions. Accordingly, a function for classical/alpha satellite DNA (protection from the wreckage towards the centromere) has been hypothesized. Since SCM and CIN are ubiquitously involved in development, homeostasis and disease (e.g., prenatal development, cancer, brain diseases, aging), we have metaphorically (ironically) designate the system explaining chromohelkosis contribution to SCM/CIN as the cytogenomic “theory of everything”, similar to the homonymous theory in physics inasmuch as it might explain numerous phenomena in chromosome biology. Recognizing possible empirical and theoretical weaknesses of this “theory”, we nevertheless believe that studies of chromohelkosis-like processes are required to understand structural variability and flexibility of the genome. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1422-0067 1661-6596 |
| Relation: | https://www.mdpi.com/1422-0067/21/21/8328; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067 |
| DOI: | 10.3390/ijms21218328 |
| URL الوصول: | https://doaj.org/article/63a900dd7eba4c6c86ff0665a212f406 |
| رقم الأكسشن: | edsdoj.63a900dd7eba4c6c86ff0665a212f406 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14220067 16616596 |
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| DOI: | 10.3390/ijms21218328 |