ArticleNature genetics2024
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
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Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19citing papers in PubMed
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Who cites it
19 citing papers in PubMed.
- A practical guide to studying genome function using single-molecule genomics.Nature reviews. Molecular cell biology · 2026Review
- Approach to the patient: genetics and management of congenital hypothyroidism.The Journal of clinical endocrinology and metabolism · 2026Article
- Article
- New Insights into the Development of Papillary Thyroid Cancer: The Roles of miR-1179 and ELF3.Cells · 2026Article
- Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths.Nature communications · 2025Article
- Mapping single-cell diploid chromatin fiber architectures using DAF-seq.Nature biotechnology · 2025Article
- Genome-wide selection inference at short tandem repeats.PLoS genetics · 2025Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- A haplotype-resolved view of human gene regulation.bioRxiv : the preprint server for biology · 2025Article
- Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.European thyroid journal · 2025Review
- STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.Genome medicine · 2025Article
- Integrating Single-Molecule Sequencing and Deep Learning to Predict Haplotype-Specific 3D Chromatin Organization in a Mendelian Condition.bioRxiv : the preprint server for biology · 2025Article
- Summary of the Year in Review Lectures at the 2024 Annual Meeting of the American Thyroid Association.Thyroid : official journal of the American Thyroid Association · 2025Article
- Profiling the epigenome using long-read sequencing.Nature genetics · 2025Review
- Resolving the chromatin impact of mosaic variants with targeted Fiber-seq.Genome research · 2024Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.bioRxiv : the preprint server for biology · 2024Article
- Contraction or sequence variant of an intergenic repeat-Alu element leads to inherited thyroid disease.Nature genetics · 2024Article
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Authors and funding
22 authors.
Helmut GrasbergerDepartment of Internal Medicine, Medical School, University of Michigan, Ann Arbor, MI, USA.
Alexandra M DumitrescuDepartment of Medicine, The University of Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-2743-770X
Xiao-Hui LiaoDepartment of Medicine, The University of Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-9860-2709
Elliott G SwansonDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-0351-6446
Roy E WeissDepartment of Medicine, University of Miami Miller School of Medicine, Miami, FL, USA.
Panudda SrichomkwunDepartment of Medicine, The University of Chicago, Chicago, IL, USA.
Theodora PappaDepartment of Medicine, The University of Chicago, Chicago, IL, USA.
Junfeng ChenInstitute of Transformative Bio-Molecules (WPI-ITbM) and Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Japan.ORCID http://orcid.org/0000-0001-6155-411X
Takashi YoshimuraInstitute of Transformative Bio-Molecules (WPI-ITbM) and Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Japan.ORCID http://orcid.org/0000-0001-7018-9652
Phillip HoffmannInteruniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles-Vrije Universiteit Brussel, Brussels, Belgium.
Monica Malheiros FrançaDepartment of Medicine, The University of Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-6020-3200
Rebecca TagettMichigan Medicine BRCF Bioinformatics Core, University of Michigan, Ann Arbor, MI, USA.
Kazumichi OnigataDepartment of Medicine, The University of Chicago, Chicago, IL, USA.
Sabine CostagliolaInstitut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles, Brussels, Belgium.
Jane RanchalisDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Mitchell R VollgerDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-8651-1615
Andrew B StergachisDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Jessica X ChongDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-1616-2448
Michael J BamshadDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Guillaume SmitsInteruniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles-Vrije Universiteit Brussel, Brussels, Belgium.
Gilbert VassartInstitut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles, Brussels, Belgium.
Samuel RefetoffDepartment of Medicine, The University of Chicago, Chicago, IL, USA. refetoff@uchicago.edu.ORCID http://orcid.org/0000-0003-0164-8231
Funding
INTERDISCIPLINARY TRAINING IN GENOMIC SCIENCEST32HG000035 · NHGRI · UNIVERSITY OF WASHINGTON · PI Bruce Colston Trapnell · 1995 to 2026
$24.2MUniversity of Washington Mendelian Genomics Research Center (UW-MGRC)U01HG011744 · NHGRI · UNIVERSITY OF WASHINGTON · PI MICHAEL Joseph BAMSHAD, Evan Eichler · 2021 to 2026
$15.8MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MTHYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR01DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI ANTONIO C BIANCO, Alexandra Mihaela Dumitrescu · 1986 to 2026
$8.1MTHYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR37DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI REFETOFF, SAMUEL · 1989 to 2015
$5.6MMechanisms of Duox2 variants in the pathogenesis of preclinical IBDR01DK134486 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Helmut F Grasberger, JOHN Y KAO · 2023 to 2026
$2.7MNHGRI NIH HHS T32 HG000035NHGRI NIH HHS U01 HG011744NHGRI NIH HHS UM1 HG006493NIDDK NIH HHS R01 DK015070NIDDK NIH HHS R01 DK134486NIDDK NIH HHS R37 DK015070
Abstract
Thyrotropin (TSH) is the master regulator of thyroid gland growth and function. Resistance to TSH (RTSH) describes conditions with reduced sensitivity to TSH. Dominantly inherited RTSH has been linked to a locus on chromosome 15q, but its genetic basis has remained elusive. Here we show that non-coding mutations in a (TTTG)
Indexed as
Chromosomes, Human, Pair 15Enhancer Elements, GeneticMicroRNAsMicrosatellite RepeatsMutationThyrotropinAnimalsFemaleHumansMalePedigreePrimatesThyroid GlandMicroRNAsMIRN1179 microRNA, humanMIRN7-1 microRNA, humanThyrotropin
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