Evidence map›Paper›PMID 34991727›Full record

ArticleHuman genomics2022

Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders.

Minh Ho, Brian Thompson, Jeffrey Nicholas Fisk, Daniel W Nebert, Elspeth A Bruford, Vasilis Vasiliou, Christopher G Bunick

Open access · goldAbstract read
In one paragraph

Article in Human genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
66citing papers in PubMed, 1 pooled it
8.9field-weighted citation impact, top 1% of its field
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

66 citing papers in PubMed, 1 synthesis or guideline pooled it, 84 citations in OpenAlex.

  1. Pooled it
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6 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 2 countries.

Minh Ho *Department of Dermatology, Yale University, 333 Cedar St., LCI 501, PO Box 208059, New Haven, CT, 06520-8059, USA.
Brian Thompson *Department of Environmental Health Sciences, Yale School of Public Health, New Haven, CT, 06511, USA.
Jeffrey Nicholas FiskProgram of Computational Biology and Bioinformatics, Yale University, New Haven, CT, 06511, USA.
Daniel W NebertDepartments of Pediatrics and Molecular and Developmental Biology, Cincinnati Children's Research Center, Cincinnati, OH, 45229, USA.
Elspeth A BrufordHUGO Gene Nomenclature Committee (HGNC), EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Vasilis VasiliouDepartment of Environmental Health Sciences, Yale School of Public Health, New Haven, CT, 06511, USA.
Christopher G BunickDepartment of Dermatology, Yale University, 333 Cedar St., LCI 501, PO Box 208059, New Haven, CT, 06520-8059, USA. christopher.bunick@yale.edu.ORCID http://orcid.org/0000-0002-4011-8308
Yale University · USCincinnati Children's Hospital Medical Center · USEuropean Bioinformatics Institute · GB

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
REPRODUCTIVE AND DEVELOPMENTAL TOXICOLOGY RESEARCHP30ES006096 · NIEHS · UNIVERSITY OF CINCINNATI · PI YADAV, JAGJIT S · 1992 to 2022
$35.4M
NRSA Training CoreTL1TR001864 · NCATS · YALE UNIVERSITY · PI CANTLEY, LLOYD G, EDELMAN, E. JENNIFER · 2016 to 2025
$9.9M
Binocular Vision, Amblyopia, and Refractive Development in EsotropiaR01EY022313 · NEI · RETINA FOUNDATION OF THE SOUTHWEST · PI Eileen Elizabeth Birch · 2012 to 2026
$7.0M
The Nomenclature of Human and Vertebrate GenesU24HG003345 · NHGRI · UNIVERSITY OF CAMBRIDGE · PI Elspeth Bruford · 2018 to 2026
$3.9M
Novel Role of Corneal Crystallins as Modulators of Cell Growth and TransparencyR01EY017963 · NEI · YALE UNIVERSITY · PI VASILIOU, VASILIS · 2007 to 2019
$3.7M
Molecular function of an intermediate filament assembly mechanism in epidermal protein complexes and cell migrationR01AR079428 · NIAMS · YALE UNIVERSITY · PI BUNICK, CHRISTOPHER GERARD · 2021 to 2025
$1.8M
Determining Structure and Function of Human Skin Barrier Proteins Using X-ray CrystallographyK08AR070290 · NIAMS · YALE UNIVERSITY · PI BUNICK, CHRISTOPHER GERARD · 2016 to 2020
$754k
Electron microscopy analysis of novel knob-pocket mechanism critical for intermediate filament assemblyR03AR076484 · NIAMS · YALE UNIVERSITY · PI BUNICK, CHRISTOPHER GERARD · 2020 to 2021
$165k
NCATS NIH HHS TL1 TR001864NEI NIH HHS R01 EY017963NEI NIH HHS R01 EY022313NHGRI NIH HHS U24 HG003345NIAMS NIH HHS K08 AR070290NIAMS NIH HHS R01 AR079428NIAMS NIH HHS R03 AR076484NIEHS NIH HHS P30 ES006096NIH HHS R01 EY017963Wellcome TrustWellcome Trust 208349/Z/17/Z
6 · The paper itself

Abstract

Intermediate filament (IntFil) genes arose during early metazoan evolution, to provide mechanical support for plasma membranes contacting/interacting with other cells and the extracellular matrix. Keratin genes comprise the largest subset of IntFil genes. Whereas the first keratin gene appeared in sponge, and three genes in arthropods, more rapid increases in keratin genes occurred in lungfish and amphibian genomes, concomitant with land animal-sea animal divergence (~ 440 to 410 million years ago). Human, mouse and zebrafish genomes contain 18, 17 and 24 non-keratin IntFil genes, respectively. Human has 27 of 28 type I "acidic" keratin genes clustered at chromosome (Chr) 17q21.2, and all 26 type II "basic" keratin genes clustered at Chr 12q13.13. Mouse has 27 of 28 type I keratin genes clustered on Chr 11, and all 26 type II clustered on Chr 15. Zebrafish has 18 type I keratin genes scattered on five chromosomes, and 3 type II keratin genes on two chromosomes. Types I and II keratin clusters-reflecting evolutionary blooms of keratin genes along one chromosomal segment-are found in all land animal genomes examined, but not fishes; such rapid gene expansions likely reflect sudden requirements for many novel paralogous proteins having divergent functions to enhance species survival following sea-to-land transition. Using data from the Genotype-Tissue Expression (GTEx) project, tissue-specific keratin expression throughout the human body was reconstructed. Clustering of gene expression patterns revealed similarities in tissue-specific expression patterns for previously described "keratin pairs" (i.e., KRT1/KRT10, KRT8/KRT18, KRT5/KRT14, KRT6/KRT16 and KRT6/KRT17 proteins). The ClinVar database currently lists 26 human disease-causing variants within the various domains of keratin proteins.

Indexed as

KeratinsZebrafishAnimalsGenomeKeratins, Type IMiceKeratinsKeratins, Type IEvolutionary bloomsGene duplicationsGene expressionIntermediate filamentKeratinMarkov-chain Monte Carlo (MCMC)MrBayes program to estimate phylogenySynteny

Identifiers

PMID34991727
PMCPMC8733776
OpenAlexW4206542402

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Registered trials

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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 OpenQuestion graph.