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

Lear, Teri L.; Houck, Marlys L.; Zhang, Y W; Debnar, L A; Sutherland-Smith, M R; Young, Latimer; Jones, Kathryn L.; Benirschke, Kurt

doi:10.1159/000059350

Cited by 14 publications

(7 citation statements)

References 25 publications

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“…The gender and ages of blood donors are provided in Additional File 2. One gorilla blood donor, described in reference [91], carries a deletion of the distal q arm of chromosome 3 (the homolog of human chromosome 4) as indicated in Additional File 4. Great ape diets contain fresh fruits, vegetables, and nutritional biscuits.…”

Section: Methodsmentioning

confidence: 99%

Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions

et al. 2010

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BackgroundIt has been proposed that anatomical differences in human and great ape guts arose in response to species-specific diets and energy demands. To investigate functional genomic consequences of these differences, we compared their physiological levels of phytanic acid, a branched chain fatty acid that can be derived from the microbial degradation of chlorophyll in ruminant guts. Humans who accumulate large stores of phytanic acid commonly develop cerebellar ataxia, peripheral polyneuropathy, and retinitis pigmentosa in addition to other medical conditions. Furthermore, phytanic acid is an activator of the PPAR-alpha transcription factor that influences the expression of genes relevant to lipid metabolism.ResultsDespite their trace dietary phytanic acid intake, all great ape species had elevated red blood cell (RBC) phytanic acid levels relative to humans on diverse diets. Unlike humans, chimpanzees showed sexual dimorphism in RBC phytanic acid levels, which were higher in males relative to females. Cultured skin fibroblasts from all species had a robust capacity to degrade phytanic acid. We provide indirect evidence that great apes, in contrast to humans, derive significant amounts of phytanic acid from the hindgut fermentation of plant materials. This would represent a novel reduction of metabolic activity in humans relative to the great apes.ConclusionWe identified differences in the physiological levels of phytanic acid in humans and great apes and propose this is causally related to their gut anatomies and microbiomes. Phytanic acid levels could contribute to cross-species and sex-specific differences in human and great ape transcriptomes, especially those related to lipid metabolism. Based on the medical conditions caused by phytanic acid accumulation, we suggest that differences in phytanic acid metabolism could influence the functions of human and great ape nervous, cardiovascular, and skeletal systems.

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Section: Methodsmentioning

confidence: 99%

Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions

et al. 2010

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“…Microsatellite polymorphisms originally identified in humans can be informative in genetic analyses of nonhuman primates that use published human PCR primers (Moore et al, 1998b;Lear et al, 2001). We have also used this approach to determine the parental origin of trisomy 18 in the present case.…”

Section: Discussionmentioning

confidence: 98%

“…The degree of phenotypic expression of this chromosomal abnormality in our baboon case was milder than those reported in human and other nonhuman primates (Table 2). In the five reported cases in nonhuman primates, the deformation of the extremities was also associated with facial abnormalities, hydrocephalus, abnormal social behavior, delayed motor control and developmental delay (de Waal et al, 1996;Lear et al, 2001;Ruppenthal et al, 2004). In humans, the common characteristics associated with trisomy 18 are more severe and include cardiac defects, intracranial anomalies, open spina bifida, renal anomalies, overlapping fingers, rocker bottom or club foot, cystic hygromas, cleft lip, two-vessel cord, gastrointestinal abnormalities, and developmental delay (Taylor, 1968;Brumfield et al, 2000;DeVore, 2000;Slavotinek et al, 2003;Yeo et al, 2003).…”

Section: Discussionmentioning

confidence: 99%

Trisomy of chromosome 18 in the baboon <i>(Papio hamadryas anubis)</i>

Howell

Hubbard²,

Moore

et al. 2005

Cytogenet Genome Res

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Trisomy 18 is usually a lethal chromosomal abnormality and is the second most common autosomal trisomy in humans, with an incidence of 1:8000 live births. It is commonly associated with abnormalities of the lower and upper extremities, having the frequency of 95% and 65%, respectively. A newborn female olive baboon (Papio hamadryas anubis) was diagnosed with intrauterine growth retardation and severe arthrogryposis-like congenital joint deformities. Cytogenetic analysis including G-banding and fluorescence in situ hybridization (FISH) revealed that the congenital abnormalities were associated with chromosomal mosaicism for trisomy 18. Genetic analysis with microsatellites from chromosome 18 confirmed the maternal origin of the extra chromosome 18. This is the first report of trisomy 18 in the baboon, which may be a promising animal model of human disease.

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“…Deletion of the distal q arm of chromosome 3 was described in a lowland gorilla (Gorilla gorilla gorilla) . The animal exhibited postnatal growth retardation, facial dysmorphisms and small hands with short fingers (Lear et al, 2001).…”

Section: Autosomesmentioning

confidence: 99%

Cytogenetics of wild and captive bred non-domestic animals

Rubeš

Musilová²,

Mastromonaco³

2008

Cytogenet Genome Res

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Cytogenetics of wild and captive bred non-domestic animals provides us with valuable information that can be implemented in wildlife management and species conservation strategies. In this review, we summarized the data published to date describing a range of chromosome abnormalities observed in non-domestic animals and their effect on phenotype. Two important factors that can potentially have drastic effects on captive breeding programs are discussed: presence of classic chromosome abnormalities, spontaneously-occurring and inherited, and intraspecific variations in chromosome number. Short-term consequences, primarily reduced reproductive efficiency, and long-term consequences, such as changes in population dynamics, are examined.

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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

Cited by 14 publications

References 25 publications

Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions

Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions

Trisomy of chromosome 18 in the baboon <i>(Papio hamadryas anubis)</i>

Cytogenetics of wild and captive bred non-domestic animals

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