Date

1-4-2017 12:00 AM

Major

Biology

Department

Ecology, Evolution, and Organismal Biology

College

College of Agriculture and Life Sciences

Project Advisor

Matthew Ellinwood

Project Advisor's Department

Animal Science

Description

Hypothyroidism is an endocrine disorder in which the thyroid gland produces insufficient amounts of thyroid hormones for normal physiological function. These functions include heart rate, ventilation rate, and cardiac output. Approximately 5% of the adult population is affected by hypothyroidism (NIH). Congenital hypothyroidism is the most treatable cause of mental retardation, affecting one in every 3,500-5,000 births (Vanderpump, 2011). Using a feline model of multiple generations, the purpose of this study was to identify the gene mutation causing hypothyroidism within a sample population. A pedigree was constructed to observe mode of inheritance. Using a candidate gene approach, the founder cat’s genome was compared to the domestic cat’s sequenced genome. Possible causative sequence mutations were compared against the progeny’s sequences to identify which gene mutation was conserved throughout the affected population. DNA amplified via PCR and gel electrophoresis was used to analyze progeny gene sequences. Of the three genes analyzed-SLC5A5, DUOX1, and TG, none fit the mode of inheritance. This suggests that either these genes were not involved in disease manifestation or it is not caused by a monogenic mutation. Future studies should focus on other homozygous mutated genes found in the proband, specifically DUOX2.

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Apr 1st, 12:00 AM

Causative Mutation of Hypothyroidism in Feline Colony

Hypothyroidism is an endocrine disorder in which the thyroid gland produces insufficient amounts of thyroid hormones for normal physiological function. These functions include heart rate, ventilation rate, and cardiac output. Approximately 5% of the adult population is affected by hypothyroidism (NIH). Congenital hypothyroidism is the most treatable cause of mental retardation, affecting one in every 3,500-5,000 births (Vanderpump, 2011). Using a feline model of multiple generations, the purpose of this study was to identify the gene mutation causing hypothyroidism within a sample population. A pedigree was constructed to observe mode of inheritance. Using a candidate gene approach, the founder cat’s genome was compared to the domestic cat’s sequenced genome. Possible causative sequence mutations were compared against the progeny’s sequences to identify which gene mutation was conserved throughout the affected population. DNA amplified via PCR and gel electrophoresis was used to analyze progeny gene sequences. Of the three genes analyzed-SLC5A5, DUOX1, and TG, none fit the mode of inheritance. This suggests that either these genes were not involved in disease manifestation or it is not caused by a monogenic mutation. Future studies should focus on other homozygous mutated genes found in the proband, specifically DUOX2.