title: Preliminary investigation of bottlenose dolphins (Tursiops truncatus) for hfe gene-related hemochromatosis.
abstract: Hemochromatosis (iron storage disease) has been reported in diverse mammals including bottlenose dolphins (Tursiops truncatus). The primary cause of excessive iron storage in humans is hereditary hemochromatosis. Most human hereditary hemochromatosis cases (up to 90%) are caused by a point mutation in the hfe gene, resulting in a C282Y substitution leading to iron accumulation. To evaluate the possibility of a hereditary hemochromatosis-like genetic predisposition in dolphins, we sequenced the bottlenose dolphin hfe gene, using reverse transcriptase-PCR and hfe primers designed from the dolphin genome, from liver of affected and healthy control dolphins. Sample size included two case animals and five control animals. Although isotype diversity was evident, no coding differences were identified in the hfe gene between any of the animals examined. Because our sample size was small, we cannot exclude the possibility that hemochromatosis in dolphins is due to a coding mutation in the hfe gene. Other potential causes of hemochromatosis, including mutations in different genes, diet, primary liver disease, and insulin resistance, should be evaluated.
authors: 1  University of Florida, College of Veterinary Medicine, PO Box 100126, 2015 SW 16th Ave., Gainesville, Florida 32608-0125, USA.
authors: Brianne E
authors: BE
authors: Phillips
authors: Stephanie
authors: S
authors: Venn-Watson
authors: Linda L
authors: LL
authors: Archer
authors: Hendrik H
authors: HH
authors: Nollens
authors: James F X
authors: JF
authors: Wellehan
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D050681:Bottle-Nosed Dolphin / Q000235:genetics*; D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006432:Hemochromatosis / Q000235:genetics / Q000662:veterinary*; D015395:Histocompatibility Antigens Class I / Q000235:genetics / Q000378:metabolism*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D015395:Histocompatibility Antigens Class I; D012333:RNA, Messenger
keywords: Bottlenose dolphin; Tursiops truncatus; hemochromatosis; hfe gene; iron storage disease