Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development

Tiago V. Pereira, Francisco M. Salzano, Adrianna Mostowska, Wieslaw H. Trzeciak, Andrés Ruiz-Linares, José A B Chies, Carmen Saavedra, Cleusa Nagamachi, Ana Hurtado, Kim Hill, Dinorah Castro-De-Guerra, Wilson A. Silva, Maria Cátira Bortolini

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

Large differences in relation to dental size, number, and morphology among and within modern human populations and between modern humans and other primate species have been observed. Molecular studies have demonstrated that tooth development is under strict genetic control, but, the genetic basis of primate tooth variation remains unknown. The PAX9 gene, which codes for a paired domain-containing transcription factor that plays an essential role in the development of mammal dentition, has been associated with selective tooth agenesis in humans and mice, which mainly involves the posterior teeth. To determine whether this gene is polymorphic in humans, we sequenced ≈2.1 kb of the entire four-exon region (exons 1, 2, 3 and 4; 1,026 bp) and exon-intron (1.1 kb) boundaries of 86 individuals sampled from Asian, European, and Native American populations. We provided evidence that human PAX9 polymorphisms are limited to exon 3 only and furnished details about the distribution of a mutation there in 350 Polish subjects. To investigate the pattern of selective pressure on exon 3, we sequenced oriholog regions of this exon in four species of New World monkeys and one gorilla. In addition, orthologous sequences of PAX9 available in public databases were also analyzed. Although several differences were identified between humans and other species, our findings support the view that strong purifying selection is acting on PAX9. New World and Old World primate lineages may, however, have different degrees of restriction for changes in this DNA region.

Original languageEnglish (US)
Pages (from-to)5676-5681
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume103
Issue number15
DOIs
StatePublished - Apr 11 2006
Externally publishedYes

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Molecular Evolution
Genetic Selection
Primates
Exons
Tooth
Genes
Platyrrhini
Gorilla gorilla
Dentition
Asian Americans
North American Indians
Introns
Population
Mammals
Transcription Factors
Databases
Mutation
DNA

Keywords

  • Evolutionary window
  • Human evolution
  • Tooth agenesis

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

Pereira, T. V., Salzano, F. M., Mostowska, A., Trzeciak, W. H., Ruiz-Linares, A., Chies, J. A. B., ... Bortolini, M. C. (2006). Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development. Proceedings of the National Academy of Sciences of the United States of America, 103(15), 5676-5681. https://doi.org/10.1073/pnas.0509562103

Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development. / Pereira, Tiago V.; Salzano, Francisco M.; Mostowska, Adrianna; Trzeciak, Wieslaw H.; Ruiz-Linares, Andrés; Chies, José A B; Saavedra, Carmen; Nagamachi, Cleusa; Hurtado, Ana; Hill, Kim; Castro-De-Guerra, Dinorah; Silva, Wilson A.; Bortolini, Maria Cátira.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 103, No. 15, 11.04.2006, p. 5676-5681.

Research output: Contribution to journalArticle

Pereira, TV, Salzano, FM, Mostowska, A, Trzeciak, WH, Ruiz-Linares, A, Chies, JAB, Saavedra, C, Nagamachi, C, Hurtado, A, Hill, K, Castro-De-Guerra, D, Silva, WA & Bortolini, MC 2006, 'Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development', Proceedings of the National Academy of Sciences of the United States of America, vol. 103, no. 15, pp. 5676-5681. https://doi.org/10.1073/pnas.0509562103
Pereira, Tiago V. ; Salzano, Francisco M. ; Mostowska, Adrianna ; Trzeciak, Wieslaw H. ; Ruiz-Linares, Andrés ; Chies, José A B ; Saavedra, Carmen ; Nagamachi, Cleusa ; Hurtado, Ana ; Hill, Kim ; Castro-De-Guerra, Dinorah ; Silva, Wilson A. ; Bortolini, Maria Cátira. / Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development. In: Proceedings of the National Academy of Sciences of the United States of America. 2006 ; Vol. 103, No. 15. pp. 5676-5681.
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