Article
A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation.
PLoS genetics - 1 Jan 2013
Jagannathan Vidhya, Bannoehr Jeanette, Plattet Philippe, Hauswirth Regula, Drögemüller Cord, Drögemüller Michaela, Wiener Dominique J, Doherr Marcus, Owczarek-Lipska Marta, Galichet Arnaud, Welle Monika M, Tengvall Katarina, Bergvall Kerstin, Lohi Hannes, Rüfenacht Silvia, Linek Monika, Paradis Manon, Müller Eliane J, Roosje Petra, Leeb Tosso
Abstract excerpt
Hereditary nasal parakeratosis (HNPK), an inherited monogenic autosomal recessive skin disorder, leads to crusts and fissures on the nasal planum of Labrador Retrievers. We performed a genome-wide association study (GWAS) using 13 HNPK cases and 23 controls. We obtained a single strong association signal on chromosome 2 (p(raw) = 4.4×10⁻¹⁴). The analysis of shared haplotypes among the 13 cases defined a critical...
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