Clinical, cytogenetic and molecular genetic characterization of a tandem fusion translocation in a male Holstein cattle with congenital hypospadias and a ventricular septal defect


Autoři: Alessandra Iannuzzi aff001;  Marina Braun aff002;  Viviana Genualdo aff001;  Angela Perucatti aff001;  Sina Reinartz aff002;  Ioannis Proios aff003;  Maike Heppelmann aff003;  Jürgen Rehage aff003;  Kirsten Hülskötter aff004;  Andreas Beineke aff004;  Julia Metzger aff002;  Ottmar Distl aff002
Působiště autorů: Institute for the Animal Production System in Mediterranean Environment (ISPAAM), National Research Council (CNR), Naples, Italy aff001;  Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany aff002;  Clinic for Cattle, University of Veterinary Medicine Hannover, Hannover, Germany aff003;  Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany aff004
Vyšlo v časopise: PLoS ONE 15(1)
Kategorie: Research Article
doi: 10.1371/journal.pone.0227117

Souhrn

Hypospadias, disorder of sex development (DSD), is a sporadic congenital abnormality of the genital region in male ruminants, which is characterized by a non-fused urethra during fetal development. Detailed clinical examination classified the hypospadias phenotype of a male Holstein calf studied here as the perineal type. In combined use of cytogenetic analysis and whole genome sequencing, a non-mosaic, pseudo-monosomy 59, XY + tan(18;27) was detected. This chromosomal aberration had its origin in a tandem fusion translocation of the bovine autosomes (BTA) 18 and 27 with an accompanying loss of genomic sequences mainly in the distal end of BTA 18 and the proximal end of BTA 27. The resulting phenotype included hypospadias, growth retardation and ventricular septal defect.

Klíčová slova:

Cattle – Genome sequencing – Metaphase – Penis – Telomeres – Y chromosomes – Hypospadias – Chromosomal translocations


Zdroje

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