Open Access Research article

A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8

John K McCooke1, Rudi Appels1, Roberto A Barrero1, Alice Ding2, Justyna E Ozimek-Kulik2, Mathew I Bellgard1, Grant Morahan3 and Jacqueline K Phillips2*

Author Affiliations

1 Centre for Comparative Genomics, Murdoch University, Perth, WA, 6150, Australia

2 Australian School of Advanced Medicine, Macquarie University, Sydney, NSW, 2109, Australia

3 The Western Australian Institute for Medical Research, University of Western Australia, Perth, WA, 6000, Australia

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BMC Genomics 2012, 13:393  doi:10.1186/1471-2164-13-393

Published: 16 August 2012

Additional files

Additional file 1:

Table S1. Candidate genes.

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Additional file 2:

Figure S1. Ancestral DNA sequence and evolutionary conserved amino acids in the NEK8 protein.

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Additional file 3:

Figure S2. RCC1 domains.

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Additional file 4:

Figure S3. Determination of cyst to kidney ratio.

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Additional file 5:

Table S2. Primer List and genomic location based on rn4 rat assembly.

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