Fig. 1.

The number of protein-coding genes increases the deleterious effects on cell physiology. a Human chromosomes are arranged by DNA content. Data were obtained from Genome Reference Consortium (GRCh38.p14). a–g To highlight the data of autosomes 13, 18, and 21 are colored in light blue, and sex chromosomes X and Y in red and green, respectively. b Human chromosomes are arranged by the number of protein-coding genes. Autosomes 13, 18, and 21 are not the smallest in size but encode the least number of proteins compared to other autosomes. c Number of transcripts per million counts (TPM) per chromosome does not correlate with chromosome size. RNAseq of a euploid primary human fibroblast from Hwang et al. 2021 (Hwang et al. 2021) was used. Prism 9 software was used to calculate linear regression analysis. d Number of transcripts per million counts (TPM) per chromosome correlates with number of protein-coding genes. Prism 9 software was used to calculate linear regression analysis. e Number of peptide counts per chromosome do not correlate with chromosome size. Tandem mass tag (TMT) proteomics of a euploid primary human fibroblast from Hwang et al. (Hwang et al. 2021) was used. Prism 9 software was used to calculate linear regression analysis. No proteins encoded on chromosome Y were detected. f Number of peptide counts per chromosome correlates with the number of protein-coding genes. Prism 9 software was used to calculate linear regression analysis. g Summary of the number of genes expressed and life expectancy in human trisomies. Asterisk (*) = few genes in the extra copy of chromosome X escape transcriptional silencing by Xist (Disteche 1995). RNAseq analysis of human fibroblast from male donors detects only three genes expressed at low levels from chromosome Y. h Summary of the effects of different trisomies on viability, cell cycle, and senescence. Yeast results are from Torres et al. (Torres et al. 2007), human trisomies from Hwang et al. (Hwang et al. 2021), mouse trisomies from Williams et al. (Williams et al. 2008), and human cell lines from Stingele et al. (Stingele et al. 2012). ND, not detected