A case of intersexuality in pigs associated with a de novo paracentric inversion 9 (p1.2; p2.2)
| Autor: | François Piumi, Claire Rogel-Gaillard, Martine Yerle, Corinne Cotinot, A. Ducos, Alain Pinton, Eric Pailhoux, R. Darre |
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| Rok vydání: | 2002 |
| Předmět: |
Genetics
0303 health sciences Bacterial artificial chromosome Breakpoint 0402 animal and dairy science Susceptibility gene Chromosome 9 04 agricultural and veterinary sciences General Medicine Chromosomal rearrangement In situ hybridization Biology 040201 dairy & animal science 03 medical and health sciences Genetic linkage analysis Animal Science and Zoology 030304 developmental biology Chromosomal inversion |
| Zdroj: | Animal Genetics. 33:69-71 |
| ISSN: | 0268-9146 |
| DOI: | 10.1046/j.1365-2052.2002.00813.x |
| Popis: | In several mammalian species, genetic defects can be responsible for the interruption of and/or the deviation from the sequential steps of normal gonadal differentiation, leading to a sex-reversal syndrome. In pigs, female-to-male sex-reversal conditions are particularly frequent, but their aetiologies remain unclear. Chromosomal abnormalities that co-occur with sex-reversal disorders can be useful in the identification of loci containing responsible or susceptibility genes. This report describes a female-to-male SRY-negative intersex pig with a de novo paracentric inversion of the short arm of one chromosome 9 (p1.2; p2.2). We have fine mapped the proximal chromosomal breakpoint of this rearrangement because it corresponded to a region potentially involved in the pig intersexuality. Fluorescent in situ hybridization (FISH) experiments carried out with Bacterial Artificial Chromosome (BAC) clones located within the critical region defined by genetic linkage analysis and ordered on the porcine RH map allowed us to locate the proximal breakpoint between markers SW2571 and SW539. Further investigations are currently in progress to find new markers inside this interval, in order to determine the BAC in which the break occurred. |
| Databáze: | OpenAIRE |
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