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24, chemin de Borde Rouge –Auzeville – CS52627
31326 Castanet Tolosan CEDEX - France

Dernière mise à jour : Mai 2018

Menu Logo Principal AgroParisTech Université Paris-Saclay


GABI : Génétique Animale et Biologie IntégrativeUnité Mixte de Recherche INRA - AgroParisTech

Identification of the mutation responsible for generalized caprine-like hypoplasia in the Montbeliard breed

Generalized caprine-like hypoplasia
The mutation responsible for the generalized caprine-like hypoplasia in the Montbeliard breed was identified and characterized on the functional level, allowing the development of a genetic test. It is a mutation in the CEP250 gene, affecting the C-Nap1 protein implicated in centriole cohesion (an organelle of the centrosome, implicated in cell division and microtubule organization) that is responsible for this defect. This syndrome is similar to Seckel syndrome (bird-headed dwarfism) in man.

Context and Stakes

Bovine breeds, in particular dairy cattle, are genetically small populations, since a small number of "elite" males are used for reproduction. This is responsible for a progressive increase in cosanguinity, favoring the emergence of recessive genetic defects such as the generalized caprine-like hypoplasia in the Montbéliarde breed. This anomaly, described by Duchesne et al (2008), is characterized by delayed growth, pigmentation defects and a long, delicate "deer-like" head, recalling some clinical characteristics of Seckel syndrome in man. Current genomic approaches facilitate the identification of mutations responsible for these defects, providing efficient management tools for animal populations. In addition, the identification of mutations in cattle leads to gained understanding of physiopathological mechanisms, being beneficial to certain studies on human pathologies.


Comparative mapping of cases of generalized caprine-like hypoplasia recorded by the National Observatory of Bovine Anomalies (ONAB) with the help of UMOTEST and Jura-Bétail, has allowed locating the gene and identifying the causal mutation, after capturing the region and sequencing. This mutation produces a stop codon in the CEP250 gene coding for the C-Nap1 protein which is implicated in centriole cohesion. The mutation increases the distance between these structures, having an impact on cell migration but not division. Since this syndrome and other syndromes described in man are similar, the mutation of the C-Nap1 protein could be responsible for primary microcephalies or cases of Seckel syndrome.


The approach applied here is being used on other anomalies analyzed in relation with ONAB and the Bovano project supported by the ANR (the National Research Agency) and Apisgene. For generalized caprine-like hypoplasia, additional analyses are underway using mice models to understand the physiopathological mechanisms linking the mutation to the observed phentoypes.


A genetic test was developed to eradicate the anomaly in the Montbéliarde breed.


1- Duchesne A., Manciaux L., Gautier M., Floriot S., Grohs C., Fritz S., Druet T., Schelcher F., Ducos A., Eggen A. 2008. A Generalized Caprine-like Hypoplasia Syndrome is localized within a 6-cM interval on bovine chromosome 13 in the Montbéliarde breed. Animal Genetics, Apr;39(2):112-20.

2- Floriot S., Vesque C., Rodriguez S., Bourgain-Guglielmetti F., Karaiskou A., Gautier M., Duchesne A., Barbey S., Fritz S., Vasilescu A., Bertaud M., Moudjou M., Halliez S., Cormier-Daire V., Hokayem J.E.L., Nigg E.A., Manciaux L., Guatteo R., Cesbron N., Toutirais G., Eggen A., Schneider-Maunoury S., Boichard D., Sobczak-Thépot J., Schibler L. 2015. C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle. Nature Communications, Apr 23;6:6894.