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Cited by 419

The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

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Cordeddu, Viviana, Di Schiavi, Elia, Pennacchio, Len A, Ma'ayan, Avi, Sarkozy, Anna, Fodale, Valentina, Cecchetti, Serena, Cardinale, Alessio, Martin, Joel, Schackwitz, Wendy, Lipzen, Anna, Zampino, Giuseppe, Mazzanti, Laura, Digilio, Maria C, Martinelli, Simone, Flex, Elisabetta, Lepri, Francesca, Bartholdi, Deborah, Kutsche, Kerstin, Ferrero, Giovanni B, Anichini, Cecilia, Selicorni, Angelo, Rossi, Cesare, Tenconi, Romano, Zenker, Martin, Merlo, Daniela, Dallapiccola, Bruno, Iyengar, Ravi, Bazzicalupo, Paolo, Gelb, Bruce D, Tartaglia, Marco·2009·Nature Genetics
DOI 10.1038/ng.425
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Abstract

N-myristoylation is a common form of co-translational protein fatty acylation resulting from the attachment of myristate to a required N-terminal glycine residue. We show that aberrantly acquired N-myristoylation of SHOC2, a leucine-rich repeat–containing protein that positively modulates RAS-MAPK signal flow, underlies a clinically distinctive condition of the neuro-cardio-facial-cutaneous disorders family. Twenty-five subjects with a relatively consistent phenotype previously termed Noonan-like syndrome with loose anagen hair (MIM607721) shared the 4A>G missense change in SHOC2 (producing an S2G amino acid substitution) that introduces an N-myristoylation site, resulting in aberrant targeting of SHOC2 to the plasma membrane and impaired translocation to the nucleus upon growth factor stimulation. Expression of SHOC2S2G in vitro enhanced MAPK activation in a cell type–specific fashion. Induction of SHOC2S2G in Caenorhabditis elegans engendered protruding vulva, a neomorphic phenotype previously associated with aberrant signaling. These results document the first example of an acquired N-terminal lipid modification of a protein causing human disease.

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Metadata

Authors
Cordeddu, V., Di Schiavi, E., Pennacchio, L. A., Ma'ayan, A., Sarkozy, A., Fodale, V., Cecchetti, S., Cardinale, A., Martin, J., Schackwitz, W., Lipzen, A., Zampino, G., Mazzanti, L., Digilio, M. C., Martinelli, S., Flex, E., Lepri, F., Bartholdi, D., Kutsche, K., Ferrero, G. B., Anichini, C., Selicorni, A., Rossi, C., Tenconi, R., Zenker, M., Merlo, D., Dallapiccola, B., Iyengar, R., Bazzicalupo, P., Gelb, B. D., & Tartaglia, M.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2009-08-16
Volume
41
Issue
9
Pages
1022-1026
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.425
OpenAlex
W2118518474
Cited by
419
References
34
FWCI
12.24
Type
journal article
Language
en
Open access
bronze

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