A 11.7-kb deletion triggers intersexuality and polledness in goats.

Mammalian sex determination is governed by the presence of the sex determining region Y gene (SRY) on the Y chromosome. Familial cases of SRY-negative XX sex reversal are rare in humans, often hampering the discovery of new sex-determining genes. The mouse model is also insufficient to correctly apprehend the sex-determination cascade, as the human pathway is much more sensitive to gene dosage.

Analysis of genetic relationships between 10 cattle breeds with 17 microsatellites.

To guide genetic conservation programmes with objective criteria, general genetic variability has to be taken into account. This study was conducted to determine the genetic variation between 10 cattle breeds by using 17 microsatellite loci and 13 biochemical markers (11 blood groups, the transferrin and beta-casein loci). Microsatellite loci were amplified in 31-50 unrelated individuals from 10 cattle breeds: Charolais, Limousin, Breton Black Pied, Parthenais, Montbéliard, Vosgien, Maine-Anjou, Normande, Jersey and Holstein.

A microsatellite within the bovine kappa-casein gene reveals a polymorphism correlating strongly with polymorphisms previously described at the protein as well as the DNA level.

The polymorphism of a (TA)n(CA)n repeat microsatellite present in the third intron of the bovine kappa-casein gene (CASK) has been investigated. The existence of six alleles differing only in the number of dinucleotide repeats has been established. A total of 330 animals belonging to nine different pure bred Bos taurus French breeds or to a cross-bred Bos taurus x Bos indicus population (Créole) were genotyped.

Two of the three genetic variants of goat alpha s1-casein which are synthesized at a reduced level have an internal deletion possibly due to altered RNA splicing.

This paper describes the elucidation of the primary structure of the three genetic variants of goat alpha s1-casein, alpha s1-Cn D, E and F, which have been found to be associated with reduced amounts of alpha s1-casein in milk. Variant E has the same electrophoretic mobility as variant B, but differs from the latter by the substitutions of Arg for Lys and of Thr for Ala at positions 100 and 195. A genetically controlled event which does not affect the amino acid sequence of this variant might be responsible for its lower rate of synthesis compared to that of alpha s1-casein B.

Sequence of caprine alpha s1-casein and characterization of those of its genetic variants which are synthesized at a high level, alpha s1-CnA, B and C.

The sequence of caprine alpha s1-casein (199 residues) was established. The peptide chain has the same length as, and shows a 88% degree of identity with, its bovine counterpart. With the ovine alpha s1-casein, the sequence of which was deduced from that of its mRNA, the degree of identity is 97%, counting as one difference a deletion of eight residues in the ovine protein.

The C system of cattle blood groups. 1. Additional factors in the system.

Four additional cattle blood group antigenic factors, provisionally termed F1, F6, F10 and F15, were shown to belong to the C system. Factor F1 appears to be a linear subtype of C" (initially designated F2, or P1B1). It is suggested that future international nomenclature should adopt C"1 and C"2 in place of F1 and C".

The C system of cattle blood groups. 2. Partial genetic map of the system.

20 cases of irregular inheritance of phenogroups in the C system of cattle blood groups were used to deduce a partial genetic map of this system, taking into consideration the 11 internationally recognized antigenic factors and the 4 additional factors recently described by Grosclaude et al. (1980). This partial map bears resemblance to that established by Bouw et al.

A genetic and biochemical analysis of a polymorphism of bovine alpha S2-casein.

Using gel electrophoresis a genetic polymorphism of alpha S2-casein (Cn) was discovered in individual milk samples from 2 bovine breeds of the eastern part of France (Vosgienne and Montbéliarde). The 3 observed phenotypes (Plate 1) are determined by 2 co-dominant alleles at an autosomal locus. The alpha S2-Cn A variant was the only one known up to now in European breeds (reference variant) and alpha S2-Cn D is a new variant, whose bands overlap the beta-casein A band at pH 8.

The genetic map of the B system of cattle blood groups as observed in French breeds.

40 cases of irregular inheritance of phenogroups in the B system of cattle blood groups, that were presumed to have arisen from single crossing-over, have been used to establish a partial genetic map of this system. In addition, the relative positions in the map of several antigenic factors were inferred from relationships observed between particular phenogroups occurring in French breeds. The tentative map thus obtained shows an overall similarity to that established by Ruiterkamp et al.

Analysis of alloantisera against bovine lymphocytes. Joint report of the 1st International Bovine Lymphocyte Antigen (BoLA) workshop.

The results and agreements of the 1 international BoLA workshop, held in Edinburgh, Scotland in August 1978, are reported. Most of these concern the results from a comparison test of 249 alloantisera to bovine lymphocytes, the antisera being contributed by 9 laboratories. These sera were compared directly in Edinburgh on a panel of lymphocytes from 130 cattle of 21 breeds.