About: Analysis of the mitochondrial genome of cheetahs (Acinonyx jubatus) with neurodegenerative disease

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About: Analysis of the mitochondrial genome of cheetahs (Acinonyx jubatus) with neurodegenerative disease Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : wasabi.inria.fr associated with source document(s)

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type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Analysis of the mitochondrial genome of cheetahs (Acinonyx jubatus) with neurodegenerative disease
Creator	Mueller, Mathias Petit, Thierry Schwarzenberger, Franz Steinborn, Ralf Walzer, Christian Burger, Pamela
Source	Elsevier; Medline; PMC
abstract	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 nondiseased animals as well as partial sequences of 26 further individuals. The A. jubatus mitochondrial genome is 17,047-bp long and shows a high sequence similarity (91%) to the domestic cat. Based on single nucleotide polymorphisms (SNPs) in the control region (CR) 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 nonconservative amino acid change and was found in 11 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.
has issue date	2004-08-18(xsd:dateTime)
bibo:doi	10.1016/j.gene.2004.05.020
bibo:pmid	15302412
has license	no-cc
sha1sum (hex)	59e38a20d75af722bbd918bcbafadabd67094865
schema:url	https://doi.org/10.1016/j.gene.2004.05.020
resource representing a document's title	Analysis of the mitochondrial genome of cheetahs (Acinonyx jubatus) with neurodegenerative disease
has PubMed Central identifier	PMC7126587
has PubMed identifier	15302412
schema:publication	Gene
resource representing a document's body	covid:59e38a20d75af722bbd918bcbafadabd67094865#body_text
is schema:about of	named entity 'ADDITION' named entity 'DISEASES' named entity 'HUMAN' named entity 'UCN' named entity 'FOUND' named entity 'SPECIFIC' named entity 'METHIONINE' named entity 'SNP' named entity 'MTND4L' named entity 'OCCURRENCE' named entity 'DEMYELINATING DISEASE' named entity 'PARTIAL' named entity 'SEQUENCES' named entity 'VALINE' named entity 'ESTABLISHED' named entity 'comparability' named entity 'substitution' named entity 'sequenced' named entity 'neurodegenerative disease' named entity 'complex I' named entity 'levels' named entity 'represents' named entity 'sequences' named entity 'exchanges' named entity 'sequences' named entity 'CHEETAHS' named entity 'REGIONS' named entity 'SINGLE NUCLEOTIDE POLYMORPHISMS' named entity 'LEVELS' named entity 'ANIMALS' named entity 'REFERENCE' named entity 'ASSOCIATED' named entity 'LONG' named entity 'SERINE' named entity 'SUBSTITUTION' named entity 'MITOCHONDRIAL DNA' named entity 'MTDNA' named entity 'SYNONYMOUS SNP' named entity 'INCLUDING' named entity 'NEURODEGENERATIVE DISEASE' named entity 'HOMOPLASMIC' named entity 'BASED' named entity 'EXCHANGES' named entity 'CONSERVATIVE AMINO ACID SUBSTITUTION' named entity 'OBSERVED' named entity 'GENE' named entity 'INCLUDED' named entity 'ANALYSIS' named entity 'NEURODEGENERATIVE DISEASE' named entity 'MITOCHONDRIAL GENOME' named entity 'SINGLE' named entity 'AFFECTING' named entity 'CAUSE' named entity 'POLYMORPHISMS' named entity 'COMPLEX I' named entity 'NON-' named entity 'COMPLETE' named entity 'ASSOCIATED WITH' named entity 'INFORMATION' named entity 'CLASSIFIED' named entity 'MTND5' named entity 'REGION' named entity 'STUDY' named entity 'SEQUENCE SIMILARITY' named entity 'INDIVIDUALS' named entity 'HETEROPLASMIC' named entity 'LEUCINE' named entity 'CHEETAHS' named entity 'III' named entity 'PEDIGREE' named entity 'HIGH' named entity 'SUBUNIT' named entity 'DISEASED' named entity 'AMINO ACID CHANGE' named entity 'ANIMAL' named entity 'IDENTIFIED'

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