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. 2021 Sep 14;11:18274. doi: 10.1038/s41598-021-97046-4

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© The Author(s) 2021

Open Access 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/.

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A recessive variant in CYS1 associated with polycystic kidney disease and liver fibrosis. (A) Genome-wide homozygosity mapping of B783 identifies homozygous peak regions. CYS1 is located within a peak region of chromosome 2 (arrowhead). (B) Exon structure of CYS1 cDNA. The locations of start codon, stop codons, and affected splice site (boundary exon 1–2) are indicated. The region of exon 1 deleted in the cpk mouse is also indicated. (C) Protein domain structure of cystin-1. A myristoylation site (M), polybasic region (P) and AxEGG motif required for targeting cystin-1 to the cilium (C) are indicated. Arrow indicates the boundary between protein regions encoded by exons 1 and 2. Abbreviations: AA, amino acid; bp, base pairs; C, cilium trafficking domain; M, myristoylation site; P, polybasic region.