Version: 1.0.0 | Published: 5 Oct 2026 | Updated: 0 days ago
Documentation
Description:
**Experiment type**: Expression profiling by high throughput sequencing
**Summary**: This study investigates how structural variation at the 17q21.31 locus influences MAPT transcript diversity across ancestries and cellular contexts. The locus contains the H1 and H2 haplotypes, which differ by a large inversion and are associated with distinct risks for neurodegenerative disease. To characterize ancestry- and haplotype-specific tau isoform expression, targeted long-read Iso-Seq was performed on human postmortem brain tissue samples from caudate and Middle Frontal Gyrus, as well as induced pluripotent stem cell–derived neurons and astrocytes. Samples represented multiple haplotype groups and ancestries, including a newly identified African-enriched H1 sub-haplotype (H1_A). Full-length transcript sequencing was used to identify known and novel MAPT isoforms, quantify relative isoform usage, and compare splicing patterns across tissues and cell types. These data provide a resource for understanding how population-specific genomic structure at 17q21.31 may shape tau biology and neurodegenerative disease susceptibility.
**Overall design**: MAPT-focused Iso-seq was performed on Caudate and Middle Frontal Gyrus post-mortem frozen brain tissue samples, in addition to iPSC derived neurons and astrocytes from individual control donors with European and African ancestry.
Coverage
Spatial:
US
Follow Up:
Unknown
Provenance
Temporal
Accrual Periodicity:
Static
Start Date:
01 January 2026
Time Lag:
Not applicable
Accessibility
Access
Access Rights:
See dataset for details. Access data at:
Usage
Resource Creators:
Alison Goate;,;Sarah Weitzman
Observations
Statistical Population
Population Description
Population Size
Measured Property
Observation Date
Persons
0
Count
01 January 2026