Distribution and sequence analysis of the melanocortin 2 receptor in horses and ponies.
Abstract: The melanocortin 2 receptor (MC2R) has relevance to equine pituitary pars intermedia dysfunction (PPID), as it is the primary binding site for ACTH, which circulates at elevated concentrations in animals affected by PPID. Despite this, little is known about MC2R in equine species. The overall aim of this investigation was to determine MC2R mRNA expression in tissues relevant to PPID in healthy horses and to examine the MC2R gene sequence in a cohort of horses and ponies with and without PPID. The study found that the MC2R gene was expressed in both adrenal and pituitary gland tissues as reported in other mammalian species. However, no expression was seen in adipose or skin tissue. An investigation of the tissue distribution and functionality of the MC2R in individuals with PPID is now recommended. Then, we investigated the coding regions (exons) of the equine MC2R gene for variations associated with PPID in a limited number of animals. This was performed using a hybridised gene capture and next generation sequencing method which found a 100% pairwise identity between all 28 individuals in the study, and with the reference genome sequence. This preliminary study found no evidence of major genetic variations in the coding region of the MC2R gene associated with PPID, though variants affecting expression may occur in the introns or remain unidentified within the exons of the gene and studies on a larger scale are required.
Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.
Publication Date: 2024-11-20 PubMed ID: 39591910DOI: 10.1016/j.domaniend.2024.106896Google Scholar: Lookup
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Summary
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The study focuses on the distribution and sequence analysis of the melanocortin 2 receptor (MC2R) in horses and ponies relevant to a condition known as equine pituitary pars intermedia dysfunction (PPID). The research found that the MC2R gene was present in adrenal and pituitary gland tissues but not in adipose or skin tissue. The study did not identify any significant variations in the MC2R gene sequence in horses with PPID.
Research Goals
- The primary objective of the investigation was to determine where MC2R mRNA expression occurred in tissues related to PPID in healthy horses.
- The researchers also aimed to analyze the MC2R gene sequence in a group of horses and ponies with and without PPID to detect potential variations associated with the disease.
Research Methodology
- First, the study examined whether MC2R genes could be found in crucial regions linked to PPID, namely adrenal and pituitary gland tissues.
- Using a method combining gene capture and next-generation sequencing, the study then investigated variations in the coding regions of the MC2R gene, also known as exons, across the group of horses and ponies.
Research Findings
- The MC2R gene was expressed in both adrenal and pituitary gland tissues. This finding matches those of studies conducted on other mammalian species.
- No MC2R mRNA expression was noted in adipose tissue (body fat) or skin tissue.
- The sequencing method revealed a 100% pairwise identity between all 28 individuals in the study and the reference genome sequence, indicating no significant genetic variations related to PPID in the coding region of the MC2R gene.
Research Recommendations
- No variations were identified in regards to PPID in this preliminary study. However, the paper suggests that potential variants impacting expression may exist in non-coding regions (introns) or remain undiscovered in the exons of the gene.
- Bigger scale investigations are recommended to further explore the potential link between MC2R gene variations and PPID.
Cite This Article
APA
Cash CM, de Laat MA.
(2024).
Distribution and sequence analysis of the melanocortin 2 receptor in horses and ponies.
Domest Anim Endocrinol, 90, 106896.
https://doi.org/10.1016/j.domaniend.2024.106896 Publication
Researcher Affiliations
- School of Biology and Environmental Science, Queensland University of Technology, Brisbane, Queensland, Australia.
- School of Biology and Environmental Science, Queensland University of Technology, Brisbane, Queensland, Australia. Electronic address: melody.delaat@qut.edu.au.
Conflict of Interest Statement
Declaration of competing interest None of the authors of this paper has a financial or personal relationship with other people or organisations that could inappropriately influence or bias the content of the paper.
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