The <it>hairless </it>(<it>hr</it>) gene is involved in the congenital hypotrichosis of <it>Valle del Belice </it>sheep

• Main Authors: Finocchiaro Raffaella, Portolano Baldassare, Damiani Giuseppe, Caroli Anna, Budelli Elena, Bolla Patrizia, Pagnacco Giulio
• Format: Article
• Language: deu
• Published: BMC 2003-06-01
• Series: Genetics Selection Evolution
• Subjects: <it>hairless </it>gene; congenital hypotrichosis; ovine; <it>Valle del Belice </it>sheep
• Online Access: http://www.gsejournal.org/content/35/S1/S147

<p>Abstract</p> <p>Congenital hypotrichosis in mammalian species consists of partial or complete absence of hair at birth. The <it>hairless </it>gene is often responsible for this disorder in men, mice and rats. Recent experimental data on <it>Valle del Belice </it>sheep reared in Sicily for milk production, support the genetic control of the ovine hypotrichosis as a Mendelian recessive trait. The ovine <it>hairless </it>gene was chosen as the candidate gene involved in this disorder. Blood samples were collected from <it>Valle del Belice </it>sheep with the normal and hypotrichotic phenotypes. Almost the entire <it>hairless </it>gene was successfully amplified using the long PCR technique. Unrelated sheep with differing phenotypes were randomly chosen for sequencing the amplified products. Different mutations related to the hypotrichotic phenotype were found in exon 3. In fact, sequencing revealed an A/T transversion at position 739, a G/A transition at position 823, and a C/T transition at position 1312. From these nucleotide exchanges, three substitutions of the processed mature protein were deduced at the amino acid positions 247 (Thr/Ser), 275 (Ala/Thr), and 438 (Gln/Stop). A PCR-SSCP based test was developed in order to detect the last mutation, which is responsible for the hypotrichotic phenotype.</p>