Viability of carriers of chromosomal abnormalities depends on genomic dosage of active ribosomal genes (rRNA genes)

Viability of carriers of chromosomal abnormalities depends on genomic dosage of active ribosomal... The genomic dosage of active (transcription-capable) ribosomal genes (AcRG) was determined in the genomes of 172 individuals, carriers of various chromosomal abnormalities: 116 individuals with numerical autosomal abnormalities (Down syndrome and Robertson translocations), 36 individuals with numerical abnormalities of gonosomes (Klinefelter, Turner, trisomy X, and disomy Y syndromes), and 20 carriers of various structural abnormalities of chromosomes. In the control sample of healthy individuals with a normal karyotype (N = 318), the AcRG number varied from 120 to 190 copies with mean of 150 ± 1 copies per diploid genome. In all the studied samples of carriers of chromosomal abnormalities, the genomic dosage (GD) of AcRG does not exceed the limits of variation of this feature in the control sample. However, in all the samples, the characteristic differences in the GD of AcRG were revealed. In accordance with the expectation, in patients with Down syndrome, the mean GD of AcRG was 10% higher, and in carriers of Robertson translocations, the maximum AcRG dose was 20% less than in the control. It can be concluded that about 10% of patients with Down syndrome and up to 50% of carriers of Robertsonian translocations die in the prenatal or early postnatal period because of excess or deficiency of AcRG in their genomes. A significant narrowing of the limits of the variation of the GD of AcRG in a sample of age-specific (over 10 years) patients with Down syndrome in comparison with the newborns was revealed. Obviously, Down syndrome carriers with low and high doses of AcRG predominantly die during the first years of life. The GD of AcRG of carriers of numerical anomalies of gonosomes predominantly fall into the region of medium, adaptive doses, and the carriers of structural chromosomal abnormalities predominantly survive when the dose of AcRG in the genome is greater than the mean in the control sample. For the first time, data on the association of the viability of carriers of different variants of chromosomal abnormalities with the number of active copies of rRNA genes in their genomes are presented. Russian Journal of Genetics Springer Journals

Viability of carriers of chromosomal abnormalities depends on genomic dosage of active ribosomal genes (rRNA genes)

Loading next page...
Pleiades Publishing
Copyright © 2017 by Pleiades Publishing, Inc.
Biomedicine; Human Genetics; Animal Genetics and Genomics; Microbial Genetics and Genomics
Publisher site
See Article on Publisher Site


You’re reading a free preview. Subscribe to read the entire article.

DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 12 million articles from more than
10,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

Monthly Plan

  • Read unlimited articles
  • Personalized recommendations
  • No expiration
  • Print 20 pages per month
  • 20% off on PDF purchases
  • Organize your research
  • Get updates on your journals and topic searches


Start Free Trial

14-day Free Trial

Best Deal — 39% off

Annual Plan

  • All the features of the Professional Plan, but for 39% off!
  • Billed annually
  • No expiration
  • For the normal price of 10 articles elsewhere, you get one full year of unlimited access to articles.



billed annually
Start Free Trial

14-day Free Trial