The hairless (hr) gene is involved in the congenital hypotrichosis of Valle del Belice sheep
| Title: | The hairless (hr) gene is involved in the congenital hypotrichosis of Valle del Belice sheep |
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| Authors: | Finocchiaro Raffaella, Portolano Baldassare, Damiani Giuseppe, Caroli Anna, Budelli Elena, Bolla Patrizia, Pagnacco Giulio |
| Source: | Genetics Selection Evolution, Vol 35, Iss Suppl 1, Pp S147-S156 (2003) |
| Publisher Information: | BMC, 2003. |
| Publication Year: | 2003 |
| Collection: | LCC:Animal culture LCC:Genetics |
| Subject Terms: | hairless gene, congenital hypotrichosis, ovine, Valle del Belice sheep, Animal culture, SF1-1100, Genetics, QH426-470 |
| More Details: | Abstract Congenital hypotrichosis in mammalian species consists of partial or complete absence of hair at birth. The hairless gene is often responsible for this disorder in men, mice and rats. Recent experimental data on Valle del Belice sheep reared in Sicily for milk production, support the genetic control of the ovine hypotrichosis as a Mendelian recessive trait. The ovine hairless gene was chosen as the candidate gene involved in this disorder. Blood samples were collected from Valle del Belice sheep with the normal and hypotrichotic phenotypes. Almost the entire hairless 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | German English French |
| ISSN: | 1297-9686 0999-193X |
| Relation: | http://www.gsejournal.org/content/35/S1/S147; https://doaj.org/toc/0999-193X; https://doaj.org/toc/1297-9686 |
| DOI: | 10.1186/1297-9686-35-S1-S147 |
| Access URL: | https://doaj.org/article/689a4069c09248cab99de8c2f30167f5 |
| Accession Number: | edsdoj.689a4069c09248cab99de8c2f30167f5 |
| Database: | Directory of Open Access Journals |
| ISSN: | 12979686 0999193X |
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| DOI: | 10.1186/1297-9686-35-S1-S147 |
| Published in: | Genetics Selection Evolution |
| Language: | German English French |