DNA was recovered from teeth of 2 great ape skeletons, Pan troglodytes (Ptr) and Pongo pygmaeus (Ppy), belonging to a 19th-century zoological collection. The skeletons presented morphological alterations possibly associated with β-thalassemia: Ptr had deformation of the calvaria and oro-maxillo-facial bones with porotic hyperostosis and extended osteoporotic lesions of the skeleton, while Ppy showed a general marked widening of the calvarial diploe but moderate osteoporotic signs on the post-cranial skeleton. We screened Ptr and Ppy for mutations in the β-globin gene (exons 1, 2, and 3) because we suspected thalassemia. Ptr β-globin sequences showed the highest degree of similarity with the human ones (99.8%), while those of Ppy were slightly different (98.2%). The results were consistent with the phylogenetic relationships between their β-globin gene sequences. We did not find any mutation in the β-globin gene of Ptr and Ppy; therefore, we conclude that, in spite of skeletal alterations, the 2 subjects analyzed were not affected by β-thalassemia.

Analysis of the beta-globin gene in DNA of suspected thalassemic great apes

VUCH, JOSEF;SEGAT, LUDOVICA;CROVELLA, SERGIO
2013

Abstract

DNA was recovered from teeth of 2 great ape skeletons, Pan troglodytes (Ptr) and Pongo pygmaeus (Ppy), belonging to a 19th-century zoological collection. The skeletons presented morphological alterations possibly associated with β-thalassemia: Ptr had deformation of the calvaria and oro-maxillo-facial bones with porotic hyperostosis and extended osteoporotic lesions of the skeleton, while Ppy showed a general marked widening of the calvarial diploe but moderate osteoporotic signs on the post-cranial skeleton. We screened Ptr and Ppy for mutations in the β-globin gene (exons 1, 2, and 3) because we suspected thalassemia. Ptr β-globin sequences showed the highest degree of similarity with the human ones (99.8%), while those of Ppy were slightly different (98.2%). The results were consistent with the phylogenetic relationships between their β-globin gene sequences. We did not find any mutation in the β-globin gene of Ptr and Ppy; therefore, we conclude that, in spite of skeletal alterations, the 2 subjects analyzed were not affected by β-thalassemia.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11368/2684748
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