2025 Hyper Recent •CC0 1.0 Universal

This work is dedicated to the public domain. No rights reserved.

Access Preprint From Server
July 5th, 2025
Version: 1
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington, Seattle
genomics
biorxiv

Population differences of chromosome 22q11.2 duplication structure predisposes differentially to microdeletion and inversion.

Porubsky, D.Open in Google Scholar•Yoo, D.Open in Google Scholar•Dishuck, P. C.Open in Google Scholar•Koundinya, N.Open in Google Scholar•Souche, E.Open in Google Scholar•Harvey, W. T.Open in Google Scholar•Munson, K. M.Open in Google Scholar•Hoekzema, K.Open in Google Scholar•Chan, D. D.Open in Google Scholar•Leung, T. Y.Open in Google Scholaret al.

The most common genomic disorder, chromosome 22q11.2 microdeletion syndrome (22q11.2DS), is mediated by highly identical and polymorphic segmental duplications (SDs) known as low copy repeats (LCRs; regions A-D) that have been challenging to sequence and characterize. Here, we report the sequence-resolved genomic architecture of 135 chromosome 22q11.2 haplotypes from diverse 1000 Genomes Project samples. We find that more than 90% of the copy number variation is polarized to the most proximal LCR region A (LCRA) where 50 distinct structural configurations are observed (~189 kbp to ~2.15 Mbp or 11-fold length variation). A higher-order SD cassette structure of 105 kbp in length, flanked by 25 kbp long inverted repeats, drives this variation and emerged in the human-chimpanzee ancestral lineage later expanding in humans ~1.0 [0.8-1.2] million years ago. African LCRA haplotypes are significantly longer (p=0.0047) when compared to non-Africans yet are predicted to be more protected against recurrent microdeletions (p=0.00053) due to a preponderance of flanking SDs in an inverted orientation. Conversely, we identified nine distinct inversion polymorphisms, including five recurrent ~2.28 Mbp inversions extending across the critical region (LCRA-D) and four smaller inversions (two LCRA-B, one LCRC-D, and one LCRB-D); 7/9 of these events were identified in haplotypes of African and admixed American ancestry. Finally, we sequence and assemble four families and show that LCRA-D deletion breakpoints map to the 105 kbp repeat unit while inversion breakpoints associate with the 25 kbp repeats adjacent to palindromic AT-rich regions. In one family, we observe evidence of more complex unequal crossover events associated with gene conversion and multiple breakpoints. Our findings suggest that specific haplotype configurations are protective and susceptible to chromosome 22q11.2DS while recurrent large-scale inversions help to explain why this syndrome is less prevalent among individuals of African descent.

Similar Papers

biorxiv
Sat Jul 05 2025
Gene gain and loss drive the diversification of gig immune genes in teleosts: structural and regulatory insights from Atlantic salmon
Interferon-stimulated genes (ISGs) are key players in vertebrate antiviral immunity. Among teleost ISGs, the grass carp reovirus-induced gene (gig) families 1 and 2 (gig1 and gig2, respectively) are absent in mammals but conserved in fishes and amphibians, and they have been implicated in resistance to viral infections across several aquaculture species. In particular, gig1 and gig2 genes are tran...
Manousi, D.
•
Naseer, S.
•
Martin, S. A. M.
•
Sandve, S. R.
•
Saitou, M.
biorxiv
Sat Jul 05 2025
RNA liquid biopsy via nanopore sequencing for novel biomarker discovery and cancer early detection
Liquid biopsies detect disease noninvasively by profiling cell-free nucleic acids that are secreted into the circulation. However, existing methods exhibit low sensitivity for detecting early stages of diseases such as cancer. Here we show that long-read nanopore sequencing of full-length cell-free RNA in plasma from healthy individuals, precancerous Barretts esophagus patients with high-grade dys...
Peddu, V.
•
Hill, A.
•
Velandi Maroli, S. L.
•
Mattingly, C.
...•
Kim, D. H.
biorxiv
Sat Jul 05 2025
Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects
Genetic variants often produce complex phenotypic effects that confound current assays and predictive models. We developed Variant in situ sequencing (VIS-seq), a pooled, image-based method that measures variant effects on molecular and cellular phenotypes in diverse cell types. Applying VIS-seq to ~3,000 LMNA and PTEN variants yielded high-dimensional morphological profiles that captured variant-...
Pendyala, S.
•
Partington, K.
•
Bradley, N.
•
McEwen, A. E.
...•
Fowler, D. M.
biorxiv
Sat Jul 05 2025
Evidence supporting the first secondary chromosome in actinobacteria as a hallmark of the Embleya genus
Embleya is a genus within the family Streptomycetaceae, a group of actinobacteria with outstanding capacity for production of specialised metabolites and a strikingly complex life cycle. In this work, we sequenced the complete genome of the new species Embleya australiensis MST-11070 and validated the assembly using optical mapping. The genome of E. australiensis MST-11070 consists of a 7.1 Mb lin...
Gomez-Escribano, J. P.
•
Dorai-Raj, S.
•
Baker, D.
•
Lacey, E.
...•
Booth, T. J.
biorxiv
Sat Jul 05 2025
The human transcription factor occupancy landscape viewed using high-resolution in situ base-conversion strand-specific single-molecule chromatin accessibility mapping
Chromatin accessibility profiling is a key tool for mapping the location of cis-regulatory elements (cREs) in the genome and tracking chromatin state dynamics during development, in response to various external and internal stimuli, and in disease contexts. Single-molecule footprinting (SMF) methods that rely on the labeling of individual accessible DNA bases have emerged in recent years as a powe...
Marinov, G. K.
•
Doughty, B. R.
•
Schaepe, J. M.
•
Wang, T.
...•
Greenleaf, W.
biorxiv
Sat Jul 05 2025
A transcriptomic approach to understand genetic networks of regeneration, cell plasticity, and longevity of the Immortal Jellyfish Turritopsis dohrnii (Cnidaria, Hydrozoa)
When medusae of Turritopsis dohrnii are damaged, wounded, or exposed to otherwise lethal conditions, they revert to an earlier life cycle stage (the polyp) through an intermediate and transient benthic stage, the cyst, thus effectively escaping death. By employing a super transcriptome approach, we profile how the expression putative homologs of genes involved in regeneration, pluripotency, and lo...
Matsumoto, Y.
•
Miglietta, M. P.
biorxiv
Sat Jul 05 2025
Breaking the cold chain: solutions for room temperature preservation of mosquitoes leading to high quality reference genomes
The Earth BioGenome Project (EBP) is a global endeavour to produce reference genomes for all described eukaryotic species. The majority of described species are arthropods, which tend to be small and require taxonomic expertise to identify to species level. Therefore, the ability to collect and preserve specimens in a suitable way for long read and Hi-C data generation using very simple approaches...
Teltscher, F.
•
Korlevic, P.
•
Sheerin, E.
•
Makunin, A.
•
Lawniczak, M. K. N.
biorxiv
Sat Jul 05 2025
Allostery is a widespread cause of loss-of-function variant pathogenicity
Allosteric communication between non-contacting sites in proteins plays a fundamental role in biological regulation and drug action. While allosteric gain-of-function variants are known drivers of oncogene activation, the broader importance of allostery in genetic disease and protein evolution is less clear. Here, we integrate large-scale experimental measurements and neural network models to prov...
Liao, X.
•
Lehner, B.
biorxiv
Sat Jul 05 2025
Epigenetic adaptation of beta cells across lifespan and disease: age-related demethylation is advanced in type 2 diabetes
Although the prevalence of type 2 diabetes (T2D) increases with age, most adults maintain normoglycemia despite rising insulin resistance, largely due to the adaptive capacity of pancreatic beta cells to meet increased metabolic demand. However, persistent insulin resistance can lead to beta cell dysfunction and T2D onset. Here, leveraging cell-type-specific methylome data from the Human Pancreas ...
Manduchi, E.
•
Descamp, H.
•
Liu, J.
•
Schug, J.
...•
Avrahami, D.