Phylogenetic comparisons suggest that distance from the locus control region guides developmental expression of primate β-type globin genes

Robert M. Johnson, Tom Prychitko, Deborah Gumucio, Derek E. Wildman, Monica Uddin, Morris Goodman

Research output: Contribution to journalArticlepeer-review

Abstract

Phylogenetic inferences drawn from comparative data on mammalian β-globin gene clusters indicate that the ancestral primate cluster contained a locus control region (LCR) and five paralogously related β-type globin loci (5′-LCR-ε-γ-ψη-δ-β-3′), with ε and γ expressed solely during embryonic life. A γ locus tandem duplication (5′-γ12-3′) triggered γ's evolution toward fetal expression but by a different trajectory in platyrrhines (New World monkeys) than in catarrhines (Old World monkeys and apes, including humans). In platyrrhine (e.g., Cebus) fetuses, γ1 at the ancestral distance from ε is down-regulated, whereas γ2 at increased distance is up-regulated. Catarrhine γ1 and γ2 acquired longer distances from ε (14 and 19 kb, respectively), and both are upregulated throughout fetal life with γ1's expression predominating over γ2's. On enlarging the platyrrhine expression data, we find Aotus γ is embryonic, Alouatta γ is inactive at term, and in Callithrix, γ1 is down-regulated fetally, whereas γ2 is up-regulated. Of eight mammalian taxa now represented per taxon by embryonic, fetal, and postnatal β-type globin gene expression data, four taxa are primates, and data for three of these primates are from this laboratory. Our results support a model in which a short distance (<10 kb) between ε and the adjacent γ is a plesiomorphic character that allows the LCR to drive embryonic expression of both genes, whereas a longer distance (>10 kb) impedes embryonic activation of the downstream gene.

Original languageEnglish (US)
Pages (from-to)3186-3191
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume103
Issue number9
DOIs
StatePublished - Feb 28 2006

Keywords

  • Embryonic activation
  • Gene duplication
  • Gene expression
  • Hemoglobin

ASJC Scopus subject areas

  • General

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