ena-STUDY-IBE(CSIC-UNIVERSITAT POMPEU FABRA)-29-06-2017-13:29:36:246-482
Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation
The genus Pan is the closest related to humans (Homo sapiens) and it includes two species: Pan troglodytes (chimpanzees) and Pan paniscus (bonobos). Different characteristics, some of them of biomedical aspect, separate them from us. For instance, some human common medical conditions are rare in chimpanzees (menopause, Alzheimer disease) although it is unclear to which extent longevity plays an active role in these differences. However, both present similar pathologies as well, thus, understanding chimpanzees' traits can help to unravel the molecular basis of the human counterpart. Here, we sequenced the genome of Nico, a central chimpanzee diagnosed with a particular biomedical condition, the Chiari malformation. We performed a variant calling comparing his genome to 25 whole genomes from healthy individuals (bonobos and chimpanzees) and, predicting the effect of the genetic variants, we looked for genes within the OMIM database. We found a novel, private, predicted as damaging mutation in Nico in LRP5, a gene related to bone density alteration pathologies, and we suggest a link between this mutation and his Chiari malformation as previously shown in humans. Our results reinforce the idea that a comparison between humans and chimpanzees can be established in this genetic frame of common diseases.
The genus Pan is the closest related to humans (Homo sapiens) and it includes two species: Pan troglodytes (chimpanzees) and Pan paniscus (bonobos). Different characteristics, some of them of biomedical aspect, separate them from us. For instance, some human common medical conditions are rare in chimpanzees (menopause, Alzheimer disease) although it is unclear to which extent longevity plays an active role in these differences. However, both present similar pathologies as well, thus, understanding chimpanzees' traits can help to unravel the molecular basis of the human counterpart. Here, we sequenced the genome of Nico, a central chimpanzee diagnosed with a particular biomedical condition, the Chiari malformation. We performed a variant calling comparing his genome to 25 whole genomes from healthy individuals (bonobos and chimpanzees) and, predicting the effect of the genetic variants, we looked for genes within the OMIM database. We found a novel, private, predicted as damaging mutation in Nico in LRP5, a gene related to bone density alteration pathologies, and we suggest a link between this mutation and his Chiari malformation as previously shown in humans. Our results reinforce the idea that a comparison between humans and chimpanzees can be established in this genetic frame of common diseases.