The Human Condition—A Molecular Approach
Open accessAbstract
Research into when and where modern humans originated and how they differ from, and interacted with, other now-extinct forms of human has so far been the realm of archaeologists and paleoanthropologists. However, over the past decade, molecular geneticists have begun to study genomes of extinct humans. Here, I discuss where we stand today with respect to understanding how modern humans came to differ from Neandertals and other human forms that existed until about 30,000 years ago.
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Functional studies of human neurogenetic mutations are challenging because the human brain has evolved novel circuits, cell types, and signaling pathways that are rare or absent in animal models.
“Functional studies of human neurogenetic mutations are obviously challenging, due to the fact that the human brain has evolved dramatically in the last 2–3 million years, gaining novel circuits, cell types, and signaling pathways that are rare or absent in animal models (Geschwind and Rakic, 2013; Molnar et al., 2014; Paabo, 2014).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Paabo, 2014
The human brain has evolved dramatically in the last 2-3 million years, gaining novel circuits, cell types, and signaling pathways that are rare or absent in animal models.
“Functional studies of human neurogenetic mutations are obviously challenging, due to the fact that the human brain has evolved dramatically in the last 2–3 million years, gaining novel circuits, cell types, and signaling pathways that are rare or absent in animal models (Geschwind and Rakic, 2013; Molnar et al., 2014; Paabo, 2014).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Paabo, 2014
Another 12 previously described protein-altering substitutions were not found among the genotypes analyzed.
“We note that another 12 previously described1 protein-altering substitutions were not found among the genotypes analyzed here (in C21orf62, DHX29, FAM149B1, FRRS1L, GPT, GSR, HERC5, IFI44L, KLF14, PLAC1L, PTCD2, SCAF11).”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [1]
The 42 protein-altering changes for which the ancestral allele has not been observed in any present-day human constitute the strongest entry points into a molecular understanding of the human condition.
“The 42 protein-altering changes for which the ancestral allele has not been observed in any present-day human, most of which have been presented before1, constitute without doubt the strongest entry points into a molecular understanding of the human condition, and should be prime candidates for experimental validation.”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [1]
Three genes (CASC5, SPAG5, and KIF18A) have been singled out as involved in spindle pole assembly during mitosis.
“Indeed, three genes (CASC5, SPAG5, and KIF18A) have been singled out as involved in spindle pole assembly during mitosis1.”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [1]
Protein-coding changes in cell cycle-related genes are highly relevant candidates for human-specific traits, with the brain being specifically sensitive to such changes.
“It has been proposed previously that protein-coding changes in cell cycle-related genes are highly relevant candidates for human-specific traits1,20, with the brain being specifically sensitive to such changes61.”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [1]
Among the 15 fixed protein-coding changes identified here but absent from previous analyses, some might have contributed to complex modifications of pathways in cell division, like AHR or DNHD1, as well as other genes with HHMCs, like CHEK1 or TOP2A.
“Among the 15 fixed protein-coding changes identified here but absent from previous analyses1,20, some might have also contributed to complex modifications of pathways in cell division, like AHR65 or DNHD166 (Supplementary Information 1), as well as other genes with HHMCs, like CHEK167 or the gene encoding for the protein TOP2A68, which shows the largest number of interactions with other HHMC-carry”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [1]
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- Authors
- Pääbo, S.
- Affiliations
- Max Planck Institute for Evolutionary Anthropology (DE)
- Corresponding author
- Pääbo, Svante
- ORCID
- Pääbo, Svante
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2014-03
- Volume
- 157
- Issue
- 1
- Pages
- 216-226
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2030710978
- Cited by
- 197
- References
- 107
- Citations by year
- 2026: 7 · 2025: 12 · 2024: 13 · 2023: 26 · 2022: 22 · 2021: 19 · 2020: 15 · 2019: 18 · 2018: 11 · 2017: 13 · 2016: 21 · 2015: 13 · 2014: 6 · 2013: 1
- FWCI
- 21.27
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- human origins, Neanderthals, extinct hominins, modern human evolution, human genome, Neanderthal DNA
- MeSH terms
- Animals, Culture, Biological Evolution, Humans, Hominidae, Genome, Human, Genome, Sequence Analysis, DNA
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