Università degli Studi di Milano   Archivio Istituzionale della Ricerca
Please use this identifier to cite or link to this item: http://hdl.handle.net/2434/207077

Title: Molecular characterization of Xp chromosome deletion in a fertile cow
Authors: PARMA, PIETRO (Last author)
Abstract: A young cow of the Marchigiana breed (central Italy) with normal body conformation and external genitalia underwent routine cytogenetic analyses prior to its use for reproduction. After normal chromosome staining, only one X chromosome was observed with a normal diploid number (2n = 60) in all 200 studied cells. Subsequent cytogenetic analyses by using both CBA- and RBA-banding techniques evidenced that almost all the p arms of the other X chromosome was lacking. Detailed FISH-mapping analyses with BAC covering this Xp arm region demonstrated that this large chromosome region was deleted. RBA-banding showed that the deleted X was late replicating. CGH array analysis evidenced that deletion involves the Xp arm from the telomere to around 39.5 Mb, referring to the BosTau6 cattle genome assembly. This abnormality deletes about 40 Mb of the X chromosome sequence, but, despite the large number of genes deleted, none of them are programmed to escape from inactivation. This can explain the normal phenotype of the female which is actually pregnant. Finally, we evidenced, by analysis of an SNP mapped to the deleted region (SNP rs29024121), that the only normal (e.g. nondeleted) X chromosome present derives from the father. Hence, the deletion has a maternal origin.
Keywords: Cattle ; CGH array ; Deletion Xp ; FISH
MIUR subjects: AGR/17 - Zootecnica Generale e Miglioramento Genetico
Publication date: 2012
Digital Object Identifier (DOI): 10.1159/000342189
Citation: Molecular characterization of Xp chromosome deletion in a fertile cow / L. De Lorenzi, E. Rossi, V. Genualdo, S. Gimelli, E. Lasagna, A. Perucatti, A. Iannuzzi, P. Parma. - In: Sexual development. - ISSN 1661-5425. - ISSN 1661-5433. - 6:6(2012), pp. 298-392.
ISI identifier: 000311899400005
Scopus identifier: 84870814615
Type: Article (author)

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