RGD Reference Report - Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. - Rat Genome Database

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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

Authors: Gong, Y  Krakow, D  Marcelino, J  Wilkin, D  Chitayat, D  Babul-Hirji, R  Hudgins, L  Cremers, CW  Cremers, FP  Brunner, HG  Reinker, K  Rimoin, DL  Cohn, DH  Goodman, FR  Reardon, W  Patton, M  Francomano, CA  Warman, ML 
Citation: Gong Y, etal., Nat Genet. 1999 Mar;21(3):302-4.
RGD ID: 1600234
Pubmed: PMID:10080184   (View Abstract at PubMed)
DOI: DOI:10.1038/6821   (Journal Full-text)

The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor beta superfamily of signalling proteins (TGFbeta-FMs), such as BMP4 (ref. 1). By diffusing through extracellular matrices more efficiently than TGFbeta-FMs, noggin may have a principal role in creating morphogenic gradients. During mouse embryogenesis, Nog is expressed at multiple sites, including developing bones. Nog-/- mice die at birth from multiple defects that include bony fusion of the appendicular skeleton. We have identified five dominant human NOG mutations in unrelated families segregating proximal symphalangism (SYM1; OMIM 185800) and a de novo mutation in a patient with unaffected parents. We also found a dominant NOG mutation in a family segregating multiple synostoses syndrome (SYNS1; OMIM 186500); both SYM1 and SYNS1 have multiple joint fusion as their principal feature. All seven NOG mutations alter evolutionarily conserved amino acid residues. The findings reported here confirm that NOG is essential for joint formation and suggest that NOG requirements during skeletogenesis differ between species and between specific skeletal elements within species.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  

Objects Annotated

Genes (Rattus norvegicus)
Nog  (noggin)

Genes (Mus musculus)
Nog  (noggin)

Genes (Homo sapiens)
NOG  (noggin)


Additional Information