Transcriptomic and genomic variants between koala populations reveals underlying genetic components to disorders in a bottlenecked population

Tarlinton, R. E., Fabijan, J., Hemmatzadeh, F., Meers, J., Owen, H., Sarker, N., Seddon, J. M., Simmons, G., Speight, N., Trott, D. J., Woolford, L., and Emes, R. D. (2021) Transcriptomic and genomic variants between koala populations reveals underlying genetic components to disorders in a bottlenecked population. Conservation Genetics, 22 (3). pp. 329-340.

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Abstract

Historical hunting pressures on koalas in the southern part of their range in Australia have led to a marked genetic bottleneck when compared with their northern counterparts. There are a range of suspected genetic disorders such as testicular abnormalities, oxalate nephrosis and microcephaly reported at higher prevalence in these genetically restricted southern animals. This paper reports analysis of differential expression of genes from RNAseq of lymph nodes, SNPs present in genes and the fixation index (population differentiation due to genetic structure) of these SNPs from two populations, one in south east Queensland, representative of the northern genotype and one in the Mount Lofty Ranges South Australia, representative of the southern genotype. SNPs that differ between these two populations were significantly enriched in genes associated with brain diseases. Genes which were differentially expressed between the two populations included many associated with brain development or disease, and in addition a number associated with testicular development, including the androgen receptor. Finally, one of the 8 genes both differentially expressed and with a statistical difference in SNP frequency between populations was SLC26A6 (solute carrier family 26 member 6), an anion transporter that was upregulated in SA koalas and is associated with oxalate transport and calcium oxalate uroliths in humans. Together the differences in SNPs and gene expression described in this paper suggest an underlying genetic basis for several disorders commonly seen in southern Australian koalas, supporting the need for further research into the genetic basis of these conditions, and highlighting that genetic selection in managed populations may need to be considered in the future.

Item ID: 78714
Item Type: Article (Research - C1)
ISSN: 1572-9737
Keywords: Bottleneck, Koala, Microencephaly, Oxalate nephrosis, Rnaseq, SNP, Testicular anomaly
Copyright Information: © The Author(s) 2021. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
Date Deposited: 25 Mar 2025 00:52
FoR Codes: 31 BIOLOGICAL SCIENCES > 3105 Genetics > 310509 Genomics @ 50%
31 BIOLOGICAL SCIENCES > 3103 Ecology > 310308 Terrestrial ecology @ 50%
SEO Codes: 18 ENVIRONMENTAL MANAGEMENT > 1806 Terrestrial systems and management > 180606 Terrestrial biodiversity @ 100%
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