Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

Science
Y MuragakiB R Olsen

Abstract

Hox genes regulate patterning during limb development. It is believed that they function in the determination of the timing and extent of local growth rates. Here, it is demonstrated that synpolydactyly, an inherited human abnormality of the hands and feet, is caused by expansions of a polyalanine stretch in the amino-terminal region of HOXD13. The homozygous phenotype includes the transformation of metacarpal and metatarsal bones to short carpal- and tarsal-like bones. The mutations identify the polyalanine stretch outside of the DNA binding domain of HOXD13 as a region necessary for proper protein function.

References

Jul 5, 1990·Nature·J D LichtU M Hansen
Jul 29, 1994·Cell·W J GehringK Wüthrich
Mar 11, 1993·Nucleic Acids Research·B Rogina, W B Upholt
May 1, 1993·Human Molecular Genetics·D R Rosen, R H Brown

❮ Previous
Next ❯

Citations

Dec 1, 1996·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·R M Winter
Jan 12, 2005·The Journal of Pathology·D G GrierT R Lappin
Feb 22, 2002·Teratology·Kenjiro KosakiNobutake Matsuo
Feb 22, 2002·Teratology·Jeffrey W Innis
Aug 15, 1998·Developmental Biology·M A TorokS V Bryant
Aug 19, 2007·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·Z-L ZhangJ-M Gu
Aug 12, 2009·Skeletal Radiology·Alison M ElliottMartin H Reed
Sep 1, 2007·Journal of Children's Orthopaedics·Farhang AlaeeMatthew B Dobbs
Feb 24, 2010·Indian Journal of Pediatrics·Shubha R Phadke, V H Sankar
Aug 1, 2006·The Journal of Hand Surgery : Journal of the British Society for Surgery of the Hand·M A Tonkin
Dec 31, 2003·Trends in Genetics : TIG·Lucia Y Brown, Stephen A Brown
Nov 24, 1999·Fertility and Sterility·H S TaylorR J Shering
Jul 13, 2000·Psychiatry Research·K Ohara1S Tsuji
Jan 8, 1999·Biochimica Et Biophysica Acta·M W RussellS Izumo
Sep 28, 1999·Trends in Genetics : TIG·S Manouvrier-HanuS Lyonnet
Jun 12, 2002·Lung Cancer : Journal of the International Association for the Study of Lung Cancer·John F LechnerHarvey I Pass
Mar 27, 2001·Progress in Neuro-psychopharmacology & Biological Psychiatry·K Ohara
Jul 5, 2003·Experimental Hematology·Julie Lessard, Guy Sauvageau
Nov 24, 2001·Brain Research Bulletin·D GoossensC Van Broeckhoven
Oct 18, 2002·Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society·A Pérez-CabreraJ C Zenteno
Nov 18, 1998·Current Opinion in Cell Biology·J P Gorski, B R Olsen
Aug 8, 1998·The International Journal of Biochemistry & Cell Biology·A Chariot, J Gielen
Jul 13, 2002·Trends in Molecular Medicine·Xiangli Yang, Gerard Karsenty
May 20, 1999·Clinical Genetics·D Lacombe
Aug 19, 2010·European Journal of Human Genetics : EJHG·Mohammad M Al-Qattan
Feb 16, 2012·European Journal of Human Genetics : EJHG·Sajid Malik
Aug 16, 2012·European Journal of Human Genetics : EJHG·David M AlvaradoChristina A Gurnett
Aug 5, 2011·Journal of Human Genetics·Mazen KurbanAngela M Christiano
Feb 1, 1997·Nature Genetics·M P Scott
Feb 1, 1997·Nature Genetics·D P Mortlock, J W Innis
Jul 1, 1996·Nature Genetics·D J Goff, C J Tabin
Jul 1, 1996·Nature Medicine·P Sharpe
Jul 10, 2001·British Journal of Haematology·A A ThompsonN C Schanen

❮ 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.