The 81st Annual Meeting of the American Association of Physical Anthropologists (2012)


Evolution of a HoxD11 enhancer in primates

ALLISON L. MACHNICKI1, C OWEN LOVEJOY1 and CHI-HUA CHIU1,2.

1Anthropology, Kent State University, 2Biological Sciences, Kent State University

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Two characters that bear on the locomotor mode of primates are the lengths of the lumbar and sacrocaudal columns, and the degree to which motion of the most caudal lumbar is restricted by the ilium. These characters vary most extensively in platyrrhines (New World monkeys). The HoxD11 gene, part of the genetic toolkit underlying body patterning, is critical to the position of the lumbosacral transition, which bears on this issue. In mouse, a bipartite enhancer (DNA cis-regulatory sequence) that controls the precise spatiotemporal expression of HoxD11 at the lumbosacral transition has been functionally defined (Gerard et al. 1997). In this study we investigated whether HoxD11 enhancer variation and length of the lumbar column are correlated in primates. We PCR amplified, cloned, and sequenced the HoxD11 bipartite enhancer in multiple primate species including catarrhines: human, gibbon (Hylobates lar) and rhesus monkey (Macaca mulatta); platyrrhines: titi monkey (Callicebus moloch), saki monkey (Pithecia pithecia), spider monkey (Ateles paniscus), and capuchin monkey (Cebus apella); and a strepsirhine: lemur (Lemur catta). Newly generated sequences were analyzed with publicly available orthologs of chimpanzee, orangutan, baboon, marmoset, mouse, and zebrafish. Using Match, a program that predicts transcription factor binding sites and phylogenetic analysis, we found that New World monkeys exhibit unique variability in transcription factor binding sites at the HoxD11 enhancer. Functional studies may provide insights into whether these base pair changes influence alterations in HoxD11 spatiotemporal expression at the lumbosacral transition.

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