A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence

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Cleft palate is one of the most commonly occurring birth defects in children, and yet its cause is not completely understood. In order to better understand cleft palate we have turned to man's best friend, the domestic dog. Common breeding practices have made the dog a unique animal model to help understand the genetic basis of naturally occurring birth defects. A genome-wide association study of Nova Scotia Duck Tolling Retrievers with naturally occurring cleft palate led to the investigation of two homeobox genes, DLX5 and DLX6. Dogs with this mutation also have a shortened lower jaw, which resembles those who have Pierre Robin Sequence (PRS). Investigation into people with PRS identifies a mutation within a highly conserved and functional region of DLX5 that may contribute to the development of PRS. This exemplifies how the dog will help us better understand common birth defects.

Vyšlo v časopise: A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence. PLoS Genet 10(4): e32767. doi:10.1371/journal.pgen.1004257
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1004257

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