Evidence map›Paper›PMID 39990387›Full record

ArticlebioRxiv : the preprint server for biology2025

The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations.

Uddalok Jana, Oscar L Rodriguez, William Lees, Eric Engelbrecht, Zach Vanwinkle, Ayelet Peres, William S Gibson, Kaitlyn Shields, Steven Schultze, Abdullah Dorgham and 7 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

Uddalok JanaDepartment of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, USA.ORCID 0009-0003-0134-7874
Oscar L RodriguezDepartment of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, USA.
William LeesDepartment of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, USA.ORCID 0000-0001-9834-6840
Eric EngelbrechtDepartment of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, USA.
Zach VanwinkleDepartment of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, USA.
Ayelet PeresBioengineering Program, Faculty of Engineering, Bar-Ilan University, Ramat Gan, 5290002, Israel.ORCID 0000-0002-0188-7315
William S GibsonDepartment of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, USA.
Kaitlyn ShieldsDepartment of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, USA.
Steven SchultzeDepartment of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, USA.
Abdullah DorghamDepartment of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, USA.
Matthew EmeryDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Gintaras DeikusDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Robert SebraDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8246-4014
Gur YaariBioengineering Program, Faculty of Engineering, Bar-Ilan University, Ramat Gan, 5290002, Israel.ORCID 0000-0001-9311-9884
Melissa L SmithDepartment of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, USA.ORCID 0000-0001-7151-3207
Corey T WatsonDepartment of Biochemistry and Molecular Genetics, University of Louisville School of Medicine, Louisville, KY, USA.ORCID 0000-0001-7248-8787

Funding

An ethnically diverse genomic reference resource for the human heavy and light chain immunoglobulin lociR24AI138963 · NIAID · UNIVERSITY OF LOUISVILLE · PI Melissa Laird Smith, Corey Taylor Watson · 2018 to 2026
$5.5M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
NHGRI NIH HHS R01 HG010169NIAID NIH HHS R24 AI138963
6 · The paper itself

Abstract

The human immunoglobulin heavy chain constant (IGHC) domain of antibodies (Ab) is responsible for effector functions critical to immunity. This domain is encoded by genes in the IGHC locus, where descriptions of genomic diversity remain incomplete. We utilized long-read sequencing to build an IGHC haplotype/variant catalog from 105 individuals of diverse ancestry. We discovered uncharacterized single nucleotide variants (SNV) and large structural variants (SVs, n=7), representing new genes and alleles enriched for non-synonymous substitutions, highlighting potential functional effects. Of the 221 identified IGHC alleles, 192 were novel. SNV, SV, and gene allele/genotype frequencies revealed population differentiation, including (i) hundreds of SNVs in African and East Asian populations exceeding a fixation index (F

Identifiers

PMID39990387
PMCPMC11844466

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.