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Genetics Selection Evolution

Open Access

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

  • Raffaella Finocchiaro1Email author,
  • Baldassare Portolano1,
  • Giuseppe Damiani2,
  • Anna Caroli3,
  • Elena Budelli4,
  • Patrizia Bolla5 and
  • Giulio Pagnacco5
Genetics Selection Evolution200335(Suppl 1):S147

Accepted: 26 February 2003

Published: 15 June 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.


hairless genecongenital hypotrichosisovineValle del Belice sheep

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Authors’ Affiliations

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


© INRA, EDP Sciences 2003