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Selected Publication:

Type of publication: Doctoral Thesis
Type of document:

Year: 2004

Authors: Kerschbaumer, P

Title: Analyse des mitochondrialen Genoms von Geparden (Acinonyx jubatus) mit einer neurodegenerativen Erkrankung.

Source: Dissertation, Vet. Med. Univ. Wien, pp. 57.


Schwarzenberger Franz

Project(s): Mutations in the mitochondrial DNA of cheetahs as possible causes for disease predisposition and neurological degenerations

The complete mitochondrial genome of Acinonyx jubatus was sequenced and mitochondrial DNA (mtDNA) regions were screened for polymorphisms as candidates for the cause of a neurodegenerative demyelinating disease affecting captive cheetahs. The mtDNA reference sequences were established on the basis of the complete sequences of two diseased and two non-diseased animals as well as partial sequences of 26 further individuals. The A. jubatus mitochondrial genome is 17,047 bp long and highly homologous (91%) to the domestic cat. Based on single nucleotide polymorphisms (SNPs) in the control region and pedigree information, the 18 myelopathic and 12 non-myelopathic cheetahs included in this study were classified into haplotypes I, II and III. In view of the phenotypic comparability of the neurodegenerative disease observed in cheetahs and human mtDNA-associated diseases specific coding regions including the tRNAs leucine UUR, lysine, serine UCN, and partial complex I and V sequences were screened. We identified a heteroplasmic and a homoplasmic SNP at codon 507 in the subunit 5 (MTND5) of complex I. The heteroplasmic haplotype I-specific valine to methionine substitution represents a non-conservative amino acid change and was found in eleven myelopathic and eight non-myelopathic cheetahs with levels ranging from 29% to 79%. The homoplasmic conservative amino acid substitution valine to alanine was identified in two myelopathic animals of haplotype II. In addition, a synonymous SNP in the codon 76 of the MTND4L gene was found in the single haplotype III animal. The amino acid exchanges in the MTND5 gene were not associated with the occurrence of neurodegenerative disease in captive cheetahs.

Mitochondrial DNA / heteroplasmy / mitochondrial disease / myelopathy real-time PCR / single nucleotide polymorphism

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