Autosomal Trisomy in a Chimpanzee: Resemblance to Down's Syndrome

McClure, Harold M.; Belden, Kathy H.; Pieper, W. A.; Jacobson, Cecil B.

doi:10.1126/science.165.3897.1010

Cited by 79 publications

(24 citation statements)

References 3 publications

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“…Moreover, molecular analysis of HSA21 and its genes is of central medical interest because of trisomy 21, the most common genetic cause of mental retardation in the human population. One case of trisomy 22 in chimpanzee has been reported, with phenotypic features similar to human Down's syndrome 15 . Therefore, our analysis of these chromosomes should reveal dynamic changes that may reflect general evolutionary events occurring throughout the human genome.…”

mentioning

confidence: 99%

DNA sequence and comparative analysis of chimpanzee chromosome 22

Watanabe

Fujiyama²,

Hattori³

et al. 2004

Nature

209

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Human–chimpanzee comparative genome research is essential for narrowing down genetic changes involved in the acquisition of unique human features, such as highly developed cognitive functions, bipedalism or the use of complex language. Here, we report the high-quality DNA sequence of 33.3 megabases of chimpanzee chromosome 22. By comparing the whole sequence with the human counterpart, chromosome 21, we found that 1.44% of the chromosome consists of single-base substitutions in addition to nearly 68,000 insertions or deletions. These differences are sufficient to generate changes in most of the proteins. Indeed, 83% of the 231 coding sequences, including functionally important genes, show differences at the amino acid sequence level. Furthermore, we demonstrate different expansion of particular subfamilies of retrotransposons between the lineages, suggesting different impacts of retrotranspositions on human and chimpanzee evolution. The genomic changes after speciation and their biological consequences seem more complex than originally hypothesized

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confidence: 99%

DNA sequence and comparative analysis of chimpanzee chromosome 22

Watanabe

Fujiyama²,

Hattori³

et al. 2004

Nature

209

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“…Some of these animals have a marked similarity in phenotype to the homologous syndromes reported in humans. The chimpanzee, Pan troglodytes (McClure et al 1969, McClure 1972 and an the orangutan, Pongo pygmaeus (Andrle et al 1979) with trisomy 22 indicated both of some clinical and behavioral symptoms of human Down's syndrome. The great apes' chromosome 22 is homologous to human's chromosome 21 (Wienberg et al 1992).…”

Section: Resultsmentioning

confidence: 99%

“…The autosomal trisomies have been reported in 11 nonhuman primates from eight different species (McClure et al 1969, McClure 1972, Turleau et al 1972, Andrle et al 1979, Ruppenthal et al 1983, Vigfusson et al 1986, Ward et al 1994, de Best et al 1995, Moore et al 1998, Best et al 1999, Lear et al 2001, Ruppenthal et al 2004 (Table 1). There were many previous reports on cytogenetics of siamang including Bender and Chu (1963), Klinger (1963), Chiarelli (1972, Groves (1972), Couturier et al (1982), Koehler (1995) and Muller et al (2003).…”

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confidence: 95%

The Discovery of Chromosome Trisomy 22: A Novel Chromosomal Feature of Siamang (Symphalangus syndactylus)

et al. 2008

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Summary For this knowledge, the discovery of the chromosome trisomy 22 in siamang (Symphalangus syndactylus) is the first report. To our scheme, blood sample was collected from one female of Khao Kheow Open Zoo (KKOZ), Chonburi province, Thailand. Chromosomes were prepared by lymphocyte cells culture at 37°C for 72 h then stained by G banding technique. The result indicated that diploid (2n) of siamang was 51 (one irregular chromosome was found). The autosome consists of 47 metacentric and submetacentric, 2 telocentric chromosomes. The X chromosome was metacentric chromosome. The increasing of one metacentric chromosome 22 lead to the presence of the irregular chromosome and the changing of 2nϭ50 to 2nϭ51. The augmentation of chromosome 22 was found in all metaphase cells of the entire study. We suggested that the chromosome increasing is a consequence from the non-disjunction in meiosis cell division.

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“…A chimpanzee (Pan troglodytes; PTR) with a similar phenotype to human Down syndrome patients had a trisomy 22 karyotype (McClure, 1969). Subsequent Q-banding and Zoo-FISH studies have identified PTR22 as the homolog of HSA21 (Benirschke et al, 1974;Jauch et al 1992).…”

Section: Discussionmentioning

confidence: 99%

Trisomy 17 in a bonobo <i>(Pan paniscus)</i> and deletion of 3q in a lowland gorilla <i>(Gorilla gorilla gorilla):</i> comparison with human trisomy 18 and human deletion 4q syndrome

Lear

Houck²,

Zhang³

et al. 2001

Cytogenet Genome Res

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A female bonobo (Pan paniscus) born at the San Diego Zoo exhibited inability to nurse and progressive weakness plus multiple congenital abnormalities including aural canal atresia and stenosis, malformed auricles, clenched hands, lordosis, agenesis of the caudal vertebra and cardiac abnormalities. Chromosome analysis identified the bonobo as being trisomic for chromosome 17, the homolog of human chromosome 18. Genotyping with human microsatellites suggested the extra chromosome was maternal in origin. In addition, a male lowland gorilla (Gorilla gorilla gorilla), also born at the zoo, exhibited postnatal growth retardation, facial dysmorphisms and small hands with short fingers. Karyotype analysis revealed the gorilla carried a deletion of the distal q arm of chromosome 3, the homolog of human chromosome 4. The phenotypic and karyotypic abnormalities found in the bonobo and gorilla were consistent with the characteristics of human trisomy 18 and human deletion 4q syndrome, respectively.

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Autosomal Trisomy in a Chimpanzee: Resemblance to Down's Syndrome

Cited by 79 publications

References 3 publications

DNA sequence and comparative analysis of chimpanzee chromosome 22

DNA sequence and comparative analysis of chimpanzee chromosome 22

The Discovery of Chromosome Trisomy 22: A Novel Chromosomal Feature of Siamang (Symphalangus syndactylus)

Trisomy 17 in a bonobo <i>(Pan paniscus)</i> and deletion of 3q in a lowland gorilla <i>(Gorilla gorilla gorilla):</i> comparison with human trisomy 18 and human deletion 4q syndrome

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