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Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2007 (English)In: Nature Genetics, ISSN 1061-4036, Vol. 39, no 11, 1318-1320 p.Article in journal (Refereed) Published
Abstract [en]

The dorsal hair ridge in Rhodesian and Thai Ridgeback dogs is caused by a dominant mutation that also predisposes to the congenital developmental disorder dermoid sinus. Here we show that the causative mutation is a 133-kb duplication involving three fibroblast growth factor (FGF) genes. FGFs play a crucial role in development, suggesting that the ridge and dermoid sinus are caused by dysregulation of one or more of the three FGF genes during development.

Place, publisher, year, edition, pages
2007. Vol. 39, no 11, 1318-1320 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-13130DOI: 10.1038/ng.2007.4ISI: 000250575900015PubMedID: 17906623OAI: oai:DiVA.org:uu-13130DiVA: diva2:40900
Available from: 2008-01-21 Created: 2008-01-21 Last updated: 2011-06-30Bibliographically approved
In thesis
1. Extracting Genomic Variations using Selector Technology
Open this publication in new window or tab >>Extracting Genomic Variations using Selector Technology
2010 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

This thesis describes the development and use of a new class of molecular tools called Selector probes, and its potential for investigations of genetic variation. The Selector technology provides multiplex amplification of targeted DNA sequences with a high specificity, and an enrichment factor in the same order of magnitude as PCR. A common feature in this thesis work is to focus the analysis on DNA regions of interest. For example, this technique can be implemented in analysing candidate regions found by whole genome studies that need validation (global to local analysis), and applications requiring detection of rare alleles (common to rare allele), important in for example cancer samples.

An assay is presented that allows for fast and simple quantification of relative copy-number variations. The method was proven to be able to detect aneuploidy in chromosome 13, 18, 21 and X, with a resolution enough to distinguish between 4 and 5 copies. The method was successfully applied to solve a biological question regarding a copy-number variation, that explains the Ridge phenotype typical for the dog bread Rhodesian Ridgebacks. The Selector strategy was able to detect and map a tandem duplication with a size of 133 kb, which was characterized with base-pair resolution.

A readout platform that facilitates simultaneous digital quantitative analysis of a large numbers of biomolecules is further introduced. The work involves arraying amplified product from successful selection and decoding each molecule by hybridization of fluorophore labeled oligonucleotides.

Finally, a genome partitioning method which is applied upstream of next generation sequencing platforms is presented. It is shown that the method provides successful enrichment with 98 % coverage and 94 % specificity and high enrichment uniformity. The technique was applied for mutation analysis of 26 cancer-related genes in tumor cell-lines and tissue.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2010. 46 p.
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 543
Selector, Selector probe, Genetic variation, Resequencing, Targeted sequencing, copy-number variations, MLGA, Bioinformatics, Next generation sequencing, NGS, Amplified single molecule, ASM
National Category
Medical Genetics
Research subject
Genetics; Molecular Medicine
urn:nbn:se:uu:diva-121429 (URN)978-91-554-7761-5 (ISBN)
Public defence
2010-05-07, Rudbeckhall, Rudbeck Laboratory, Dag Hammarskjölds väg 20, Uppsala, 13:00 (English)
Available from: 2010-04-14 Created: 2010-03-23 Last updated: 2010-04-16

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Karlsson, Elinor K.Pielberg, Gerli RosengrenLindblad-Toh, KerstinAndersson, Leif
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