Chimpanzee Down syndrome: a case study of trisomy 22 in a captive chimpanzee

Hirata, Satoshi; Hirai, Hirohisa; Nogami, Etsuko; Morimura, Naruki; Udono, Toshifumi

doi:10.1007/s10329-017-0597-8

Cited by 22 publications

(17 citation statements)

References 22 publications

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“…This implies that tested individuals are not coming from a single population, which increases the chance that our results are generalizable. Finally, one of the orangutans is somehow special in that she is showing characteristic signs of primates’ Down syndrome [ 72 ]. Interestingly, her pToM score is zero, which may have decreased our empirical estimate of orangutans ToM sophistication ( pToM = 0.51±0.14 if this individual is excluded).…”

Section: Discussionmentioning

confidence: 99%

Reading wild minds: A computational assay of Theory of Mind sophistication across seven primate species

et al. 2017

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Theory of Mind (ToM), i.e. the ability to understand others' mental states, endows humans with highly adaptive social skills such as teaching or deceiving. Candidate evolutionary explanations have been proposed for the unique sophistication of human ToM among primates. For example, the Machiavellian intelligence hypothesis states that the increasing complexity of social networks may have induced a demand for sophisticated ToM. This type of scenario ignores neurocognitive constraints that may eventually be crucial limiting factors for ToM evolution. In contradistinction, the cognitive scaffolding hypothesis asserts that a species' opportunity to develop sophisticated ToM is mostly determined by its general cognitive capacity (on which ToM is scaffolded). However, the actual relationships between ToM sophistication and either brain volume (a proxy for general cognitive capacity) or social group size (a proxy for social network complexity) are unclear. Here, we let 39 individuals sampled from seven non-human primate species (lemurs, macaques, mangabeys, orangutans, gorillas and chimpanzees) engage in simple dyadic games against artificial ToM players (via a familiar human caregiver). Using computational analyses of primates' choice sequences, we found that the probability of exhibiting a ToM-compatible learning style is mainly driven by species' brain volume (rather than by social group size). Moreover, primates' social cognitive sophistication culminates in a precursor form of ToM, which still falls short of human fully-developed ToM abilities.

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Section: Discussionmentioning

confidence: 99%

Reading wild minds: A computational assay of Theory of Mind sophistication across seven primate species

et al. 2017

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“…The microdeletion is located in a genomic hotspot prone to recurrent mutational events; therefore, additional mutations may be observed in chimpanzees. This putative microdeletion syndrome (Sudmant et al, ), as well as phenotypic and karyotypic abnormalities consistent with human trisomy 18, human deletion 4q syndrome, and trisomy 21/Down syndrome observed in great apes (Hirata, Hirai, Nogami, Morimura, & Udono, ; Lear et al, ; Luke, Gandhi, & Verma, ) can provide insight into etiology and evolution of human genetic defects.…”

Section: Genomic Diversity Resources For Nhpsmentioning

confidence: 84%

Resources for functional genomic studies of health and development in nonhuman primates

Jasinska

2020

American J Phys Anthropol

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Primates display a wide range of phenotypic variation underlaid by complex genetically regulated mechanisms. The links among DNA sequence, gene function, and phenotype have been of interest from an evolutionary perspective, to understand functional genome evolution and its phenotypic consequences, and from a biomedical perspective to understand the shared and human-specific roots of health and disease. Progress in methods for characterizing genetic, transcriptomic, and DNA methylation (DNAm) variation is driving the rapid development of extensive omics resources, which are now increasingly available from humans as well as a growing number of nonhuman primates (NHPs). The fast growth of large-scale genomic data is driving the emergence of integrated tools and databases, thus facilitating studies of gene functionality across primates. This review describes NHP genomic resources that can aid in exploration of how genes shape primate phenotypes. It focuses on the gene expression trajectories across development in different tissues, the identification of functional genetic variation (including variants deleterious for protein function and regulatory variants modulating gene expression), and DNAm profiles as an emerging tool to understand the process of aging. These resources enable comparative functional genomics approaches to identify species-specific and primate-shared gene functionalities associated with health and development.K E Y W O R D S brain, deletrious variation, epigenetic clock, eQTL, RNAseq, SNV, whole-genome sequencing

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“…As input, we used real DNA sequences obtained from the National Center for Biotechnology (NCBI) [ 36 ]. We compare homologous chromosomes from human and chimpanzee genomes, as it has been observed high similarity in evolutionary studies on the human species [ 37 ], in particular for chromosomes 16 [ 38 ], 22 [ 39 ] and Y [ 40 ]. Our selection is summarized in Table 4 , where comparisons are named chr22, chr21, 47M, chrY, following names found in [ 29 , 30 ].…”

Section: Methodsmentioning

confidence: 99%

DNA sequences alignment in multi-GPUs: acceleration and energy payoff

et al. 2018

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BackgroundWe present a performance per watt analysis of CUDAlign 4.0, a parallel strategy to obtain the optimal pairwise alignment of huge DNA sequences in multi-GPU platforms using the exact Smith-Waterman method.ResultsOur study includes acceleration factors, performance, scalability, power efficiency and energy costs. We also quantify the influence of the contents of the compared sequences, identify potential scenarios for energy savings on speculative executions, and calculate performance and energy usage differences among distinct GPU generations and models. For a sequence alignment on chromosome-wide scale (around 2 Petacells), we are able to reduce execution times from 9.5 h on a Kepler GPU to just 2.5 h on a Pascal counterpart, with energy costs cut by 60%.ConclusionsWe find GPUs to be an order of magnitude ahead in performance per watt compared to Xeon Phis. Finally, versus typical low-power devices like FPGAs, GPUs keep similar GFLOPS/w ratios in 2017 on a five times faster execution.

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Chimpanzee Down syndrome: a case study of trisomy 22 in a captive chimpanzee

Cited by 22 publications

References 22 publications

Reading wild minds: A computational assay of Theory of Mind sophistication across seven primate species

Reading wild minds: A computational assay of Theory of Mind sophistication across seven primate species

Resources for functional genomic studies of health and development in nonhuman primates

DNA sequences alignment in multi-GPUs: acceleration and energy payoff

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