Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q3V6T2 (ape)
 2,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A quarter century ago, a chimpanzee with trisomy 22 was reported to have the clinical manifestation of Down syndrome. The features of Down syndrome in human have been associated with chromosome 21 band q22.3. The recent availability of chromosome and loci specific probes has prompted us to utilize the human cosmid probe (D21S65) for the trisomy 21 region in the chromosomes of the chimpanzee (Pan troglodytes), gorilla (Gorilla gorilla) and orangutan (Pongo pygmeus). Interestingly, the hybridization site for the Down syndrome region was found on the equivalent ape chromosome 22 in all three primates (the human equivalent of chromosome 21). Apparently, these results support the notion that the Down syndrome critical region of human chromosome 21 band q22.3 is conserved in great apes, which has displayed mongolism in a chimpanzee when present in triplicate conditions. Furthermore, other probes can be used as phylogenetic signals to enhance the understanding of human descent.
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PMID:Conservation of the Down syndrome critical region in humans and great apes. 766 94

We have analysed the genomic structure and transcriptional activity of a 2.3-Mb genomic sequence in the juxtacentromeric region of human chromosome 21. Our work shows that this region comprises two different chromosome domains. The 1.5-Mb proximal domain: (i) is a patchwork of chromosome duplications; (ii) shares sequence similarity with several chromosomes; (iii) contains several gene fragments (truncated genes having an intron/exon structure) intermingled with retrotransposed pseudogenes; and (iv) harbours two genes (TPTE and BAGE2) that belong to gene families and have a cancer and/or testis expression profile. The TPTE gene family was generated before the branching of Old World monkeys from the great ape lineage, by intra- and interchromosome duplications of the ancestral TPTE gene mapping to phylogenetic chromosome XIII. By contrast, the 0.8-Mb distal domain: (i) is devoid of chromosome duplications; (ii) has a chromosome 21-specific sequence; (iii) contains no gene fragments and only one retrotransposed pseudogene; and (iv) harbours six genes including housekeeping genes. G-rich sequences commonly associated with duplication termini cluster at the boundary between the two chromosome domains. These structural and transcriptional features lead us to suggest that the proximal domain has heterochromatic properties, whereas the distal domain has euchromatic properties.
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PMID:Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms. 1290 39

The most frequent chromosomal aneuploidy in humans, trisomy 21 (T21), has only been reported twice in the common chimpanzee (Pan troglodytes). In both cases, phenotypical traits were comparable to human T21 traits and were formally diagnosed through conventional techniques like chromosomal staining. Here, we present the first application of sequencing data as a diagnostic tool to compare chromosomal dosage imbalances in chimpanzees. By calculating the ratio of mapped reads on each chromosome between a case and a control, we observe a trisomic dosage imbalance on chromosome 21 in the case individual. While case numbers remain too low to be conclusive, evidence suggests that prevalence of T21 in chimpanzees could be lower than in humans. In future genetic testing of captive ape populations, the genetic diagnostic methods presented here will allow for a reliable and time-efficient assessment of the global prevalence of chromosomal dose imbalances in chimpanzees and other great apes.
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PMID:Genetic diagnosis of trisomy 21 in chimpanzees (Pan troglodytes). 3216 59