Evolutionary toggling of the MAPT 17q21.31 inversion region
Open accessAbstract
Using comparative sequencing approaches, we investigated the evolutionary history of the European-enriched 17q21.31 MAPT inversion polymorphism. We present a detailed, BAC-based sequence assembly of the inverted human H2 haplotype and compare it to the sequence structure and genetic variation of the corresponding 1.5-Mb region for the noninverted H1 human haplotype and that of chimpanzee and orangutan. We found that inversion of the MAPT region is similarly polymorphic in other great ape species, and we present evidence that the inversions occurred independently in chimpanzees and humans. In humans, the inversion breakpoints correspond to core duplications with the LRRC37 gene family. Our analysis favors the H2 configuration and sequence haplotype as the likely great ape and human ancestral state, with inversion recurrences during primate evolution. We show that the H2 architecture has evolved more extensive sequence homology, perhaps explaining its tendency to undergo microdeletion associated with mental retardation in European populations.
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In ASD, most PRS associations mapped to 17q21.31.
“In ASD, the majority of associations map to 17q21.31, which harbors a common inversion polymorphism and rare deleterious structural variants associated with intellectual disability (45).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [45]
Common variants in GWAS are likely tagging the common inversion and other recurrent structural variants at 17q21.31.
“However, common variants in GWAS are also likely tagging the common inversion and other recurrent structural variants present at this locus (45).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [45]
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- Authors
- Zody, M. C., Jiang, Z., Fung, H.-C., Antonacci, F., Hillier, L. W., Cardone, M. F., Graves, T. A., Kidd, J. M., Cheng, Z., Abouelleil, A., Chen, L., Wallis, J., Glasscock, J., Wilson, R. K., Reily, A. D., Duckworth, J., Ventura, M., Hardy, J., Warren, W. C., & Eichler, E. E.
- Affiliations
- Broad Institute (US)
- Howard Hughes Medical Institute (US)
- Chang Gung University (TW)
- Washington University in St. Louis (US)
- University of Bari Aldo Moro (IT)
- National Institutes of Health (US)
- UCL Queen Square Institute of Neurology (GB)
- Corresponding author
- Warren, Wesley C
- Eichler, Evan E
- ORCID
- Venue
- Nature Genetics
- Published
- 2008-08-10
- Volume
- 40
- Issue
- 9
- Pages
- 1076-1083
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC2684794
- OpenAlex
- W2020079665
- Cited by
- 227
- References
- 45
- Citations by year
- 2026: 7 · 2025: 13 · 2024: 15 · 2023: 12 · 2022: 30 · 2021: 8 · 2020: 10 · 2019: 4 · 2018: 5 · 2017: 8 · 2016: 10 · 2015: 16 · 2014: 15 · 2013: 4 · 2012: 21
- FWCI
- 9.33
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health
- National Institute on Aging (Z01AG000957)
- National Human Genome Research Institute (HG002385, R01HG002385)
- National Institute of General Medical Sciences (GM 058815, R01GM058815)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- MAPT, chromosomal inversions, H2 haplotype, H1 haplotype, inversion polymorphism, great apes, chimpanzees, orangutans, ancestral state reconstruction, inversion breakpoints, sequence homology, microdeletion, intellectual disability, European populations
- MeSH terms
- Animals, Base Sequence, Pan troglodytes, Chromosomes, Human, Pair 17, Humans, Chromosome Inversion, Models, Biological, Molecular Sequence Data, Phylogeny, Polymorphism, Genetic, Pongo pygmaeus, tau Proteins, Sequence Analysis, DNA, Evolution, Molecular, Gene Duplication
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