| Autor: |
Finocchiaro, Raffaella, Portolano, Baldassare, Damiani, Giuseppe, Caroli, Anna, Budelli, Elena, Bolla, Patrizia, Pagnacco, Giulio |
| Zdroj: |
Genetics Selection Evolution; June 2003, Vol. 35 Issue: Supplement 1 |
| Abstrakt: |
Congenital hypotrichosis in mammalian species consists of partial or complete absence of hair at birth. The hairlessgene is often responsible for this disorder in men, mice and rats. Recent experimental data on Valle del Belicesheep reared in Sicily for milk production, support the genetic control of the ovine hypotrichosis as a Mendelian recessive trait. The ovine hairlessgene was chosen as the candidate gene involved in this disorder. Blood samples were collected from Valle del Belicesheep with the normal and hypotrichotic phenotypes. Almost the entire hairlessgene 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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
Full text from SpringerLink