Free Access
Genet. Sel. Evol.
Volume 35, Number Suppl. 1, 2003
Second International Symposium on Candidate Genes for Animal Health
Page(s) S147 - S156
Genet. Sel. Evol. 35 (2003) S147-S156
DOI: 10.1051/gse:2003023

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

Raffaella Finocchiaroa, Baldassare Portolanoa, Giuseppe Damianib, Anna Carolic, Elena Budellid, Patrizia Bollae and Giulio Pagnaccoe

a  Dipartimento S. En. Fi. Mi. Zo., Sezione Produzione Animale, Palermo, Italy
b  IGM-CNR, Pavia, Italy
c  Dipartimento di Sanità e Benessere Animale, Valenzano (Bari), Italy
d  CERSA, Segrate (Milano), Italy
e  Dipartimento di Veterinaria per la Sicurezza Alimentare, Milano, Italy

(Accepted 26 February 2003)

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.

Key words: hairless gene / congenital hypotrichosis / ovine / Valle del Belice sheep

Correspondence and reprints: Raffaella Finocchiaro

© INRA, EDP Sciences 2003