A Catalog of Coding Sequence Variations in Salivary Proteins’ Genes Occurring during Recent Human Evolution

Saliva houses over 2000 proteins and peptides with poorly clarified functions, including proline-rich proteins, statherin, P-B peptides, histatins, cystatins, and amylases. Their genes are poorly conserved across related species, reflecting an evolutionary adaptation. We searched the nucleotide subs...

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Bibliographic Details
Published in:International journal of molecular sciences 2023-10, Vol.24 (19), p.15010
Main Authors: Di Pietro, Lorena, Boroumand, Mozhgan, Lattanzi, Wanda, Manconi, Barbara, Salvati, Martina, Cabras, Tiziana, Olianas, Alessandra, Flore, Laura, Serrao, Simone, Calò, Carla M., Francalacci, Paolo, Parolini, Ornella, Castagnola, Massimo
Format: Article
Language:English
Subjects:
Amino acids
Amylases
Chromosomes
Enzymes
Epigenetics
Evolution
Exocrine glands
Food habits
Gene loci
Genes
Genomes
Genomics
Homeostasis
Hominids
Human evolution
nucleotide substitutions
Peptides
Phosphorylation
Proline
Proteins
salivary proteins
Wildlife conservation
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Summary:Saliva houses over 2000 proteins and peptides with poorly clarified functions, including proline-rich proteins, statherin, P-B peptides, histatins, cystatins, and amylases. Their genes are poorly conserved across related species, reflecting an evolutionary adaptation. We searched the nucleotide substitutions fixed in these salivary proteins’ gene loci in modern humans compared with ancient hominins. We mapped 3472 sequence variants/nucleotide substitutions in coding, noncoding, and 5′-3′ untranslated regions. Despite most of the detected variations being within noncoding regions, the frequency of coding variations was far higher than the general rate found throughout the genome. Among the various missense substitutions, specific substitutions detected in PRB1 and PRB2 genes were responsible for the introduction/abrogation of consensus sequences recognized by convertase enzymes that cleave the protein precursors. Overall, these changes that occurred during the recent human evolution might have generated novel functional features and/or different expression ratios among the various components of the salivary proteome. This may have influenced the homeostasis of the oral cavity environment, possibly conditioning the eating habits of modern humans. However, fixed nucleotide changes in modern humans represented only 7.3% of all the substitutions reported in this study, and no signs of evolutionary pressure or adaptative introgression from archaic hominins were found on the tested genes.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms241915010