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| Status |
Public on Jan 31, 2024 |
| Title |
Genome-wide analyses reveals an association between invasive urothelial carcinoma in the Shetland sheepdog, NIPAL1, and the MAPK signaling pathway |
| Organism |
Canis lupus familiaris |
| Experiment type |
Genome binding/occupancy profiling by high throughput sequencing
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| Summary |
Naturally occurring canine invasive urinary carcinoma (iUC) closely mimics human high grade iUC in terms of age of onset, pathology, cellular and molecular features, metastatic profiles, and treatment response . Shetland sheepdogs (Shelties), the focus of this study, are a small herding breed and popular family pet. Multiple studies demonstrate their extraordinary disease risk, with one survey reporting that of 3359 Shelties, iUC comprised 12% of all Sheltie cancer diagnoses, which is six times the expected rate of 2% for all dogs. In this study we analyze one hundred Shelties and 55 dogs from closely related breeds and identify a single major risk locus associated with iUC, featuring NIPA-like domain containing 1 (NIPAL1), a strong candidate gene, and associated mutations. By segregating samples according to genotype, we identify six additional loci that modify individual disease risk when combined with a putative pathogenic protein altering mutation in NIPAL1. Merging the GWAS loci with tumor sequence identifies the mitogen activated protein kinase (MAPK) signaling pathway as a key component of canine iUC genetic susceptibility.
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| Overall design |
ChIP-Seq for 3 histone modifications H3K4me1, H3K4me3, and K3K27ac in 2 canine invasive urinary carcinoma cell line samples.
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| Contributor(s) |
Parker HG, Harris AC, Plassais J, Dhawan D, Kim EM, Knapp DW, Ostrander EA |
| Citation(s) |
38778091 |
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| Submission date |
Jan 24, 2024 |
| Last update date |
Jun 05, 2024 |
| Contact name |
Alexander Christian Harris |
| E-mail(s) |
alex.harris@nih.gov
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| Phone |
301-402-2016
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| Organization name |
National Institutes of Health
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| Department |
National Human Genome Research Institute
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| Lab |
Ostrander
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| Street address |
50 South Drive
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| City |
Bethesda |
| State/province |
Maryland |
| ZIP/Postal code |
20892 |
| Country |
USA |
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| Platforms (1) |
| GPL16540 |
Illumina HiSeq 2000 (Canis lupus familiaris) |
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| Samples (8)
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| Relations |
| BioProject |
PRJNA1068515 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE254079_RAW.tar |
32.9 Mb |
(http)(custom) |
TAR (of NARROWPEAK, WIG) |
SRA Run Selector |
| Raw data are available in SRA |
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