A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development

Proceedings of the National Academy of Sciences of the United States of America
John CobbDenis Duboule

Abstract

Deficiencies or mutations in the human pseudoautosomal SHOX gene are associated with a series of short-stature conditions, including Turner syndrome, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Although this gene is absent from the mouse genome, the closely related paralogous gene Shox2 displays a similar expression pattern in developing limbs. Here, we report that the conditional inactivation of Shox2 in developing appendages leads to a strong phenotype, similar to the human conditions, although it affects a different proximodistal limb segment. Furthermore, using this mouse model, we establish the cellular etiology of these defects and show that Shox2 acts upstream the Runx2 gene, a key regulator of chondrogenesis.

References

Sep 6, 1991·Cell·D CosgroveD Mathis
Jun 29, 1995·Nature·A P DavisM R Capecchi
Aug 1, 1997·Human Molecular Genetics·J W EllisonW Chiong
Apr 23, 1999·Developmental Dynamics : an Official Publication of the American Association of Anatomists·M InadaT Komori
Apr 6, 2000·Human Molecular Genetics·M Clement-JonesG A Rappold
Jun 3, 2000·Nature Genetics·C I RodríguezS M Dymecki
Oct 26, 2001·Hand Surgery : an International Journal Devoted to Hand and Upper Limb Surgery and Related Research : Journal of the Asia-Pacific Federation of Societies for Surgery of the Hand·C F MunnsD Vickers
Apr 24, 2002·Developmental Biology·Sigmar StrickerStefan Mundlos
Jul 12, 2002·Genesis : the Journal of Genetics and Development·Malcolm LoganClifford J Tabin
Jul 13, 2002·American Journal of Medical Genetics·Andrew R ZinnJudith L Ross
Dec 12, 2003·Development·Anne M Boulet, Mario R Capecchi
Aug 5, 2004·The Journal of Clinical Endocrinology and Metabolism·C J F MunnsJ A Batch
Oct 29, 2005·Nature Genetics·S D M BrownUNKNOWN Eumorphia Consortium

❮ Previous
Next ❯

Citations

Feb 7, 2012·Pediatric Cardiology·Hongbing LiuYiping Chen
Nov 15, 2012·Cell and Tissue Research·Dennis R WarnerM Michele Pisano
Jun 25, 2013·Differentiation; Research in Biological Diversity·Simone ProbstAimée Zuniga
Jun 27, 2013·Proceedings of the National Academy of Sciences of the United States of America·Kevin Y LeeC Ronald Kahn
Sep 23, 2010·Human Molecular Genetics·Sandra PuskaricGudrun Rappold
Apr 12, 2013·Human Molecular Genetics·Jessica M RosinJohn Cobb
Sep 23, 2009·Current Opinion in Endocrinology, Diabetes, and Obesity·Chanika Phornphutkul, Philip A Gruppuso
May 6, 2011·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Alexandra ScottFan Wang
Mar 19, 2014·Biochimica Et Biophysica Acta·Zhuo LiDennis E Vance
Jul 26, 2014·International Journal of Molecular Sciences·Xihai LiXianxiang Liu
Oct 9, 2007·Archives of Physiology and Biochemistry·Antonio MarchiniKatja U Schneider
Apr 22, 2014·Neoplasia : an International Journal for Oncology Research·Sungguan HongShuang Huang
Dec 8, 2010·The Journal of Hand Surgery·Kerby C ObergMichael A Tonkin
Jul 24, 2007·Current Opinion in Genetics & Development·Jozsef Zakany, Denis Duboule
Apr 27, 2013·Genesis : the Journal of Genetics and Development·Cheng SunYiPing Chen
Nov 23, 2011·The European Journal of Neuroscience·Hind AbdoPatrik Ernfors
Dec 19, 2013·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Anne GlaserGudrun A Rappold
May 28, 2015·Molecular Diagnosis & Therapy·Lele SongYuemin Li
Dec 16, 2010·Developmental Biology·Lori VickermanJohn Cobb
Jul 19, 2015·BMC Developmental Biology·Anna M RainesS Steven Potter
Jan 27, 2009·Developmental Biology·Ramón A Espinoza-LewisYiPing Chen
Jan 17, 2013·Diabetes·Kevin Y LeeC Ronald Kahn
Apr 8, 2017·Experimental & Molecular Medicine·Pan JinXingdong Zhang
Apr 30, 2017·Development·Endika HaroKerby C Oberg
May 23, 2014·Journal of the American Heart Association·Hongbing LiuYiPing Chen
Jan 1, 2017·Circulation. Arrhythmia and Electrophysiology·Thomas KoflerDavid Conen

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.