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

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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. / Cordeddu, Viviana; Elia, Di Schiavi; 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; Deborah, Bartholdi; 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.

In: NAT GENET, Vol. 41, No. 9, 9, 2009, p. 1022-1026.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Cordeddu, V, Elia, DS, Pennacchio, LA, Ma'ayan, A, Sarkozy, A, Fodale, V, Cecchetti, S, Cardinale, A, Martin, J, Schackwitz, W, Lipzen, A, Zampino, G, Mazzanti, L, Digilio, MC, Martinelli, S, Flex, E, Lepri, F, Deborah, B, Kutsche, K, Ferrero, GB, Anichini, C, Selicorni, A, Rossi, C, Tenconi, R, Zenker, M, Merlo, D, Dallapiccola, B, Iyengar, R, Bazzicalupo, P, Gelb, BD & Tartaglia, M 2009, 'Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.', NAT GENET, vol. 41, no. 9, 9, pp. 1022-1026. <http://www.ncbi.nlm.nih.gov/pubmed/19684605?dopt=Citation>

APA

Cordeddu, V., Elia, D. S., 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., Deborah, B., Kutsche, K., ... Tartaglia, M. (2009). Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. NAT GENET, 41(9), 1022-1026. [9]. http://www.ncbi.nlm.nih.gov/pubmed/19684605?dopt=Citation

Vancouver

Cordeddu V, Elia DS, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. NAT GENET. 2009;41(9):1022-1026. 9.

Bibtex

@article{f75c8907d0074e0cba8ae4418cb7f23f,
title = "Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.",
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 SHOC2(S2G) in vitro enhanced MAPK activation in a cell type-specific fashion. Induction of SHOC2(S2G) 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.",
author = "Viviana Cordeddu and Elia, {Di Schiavi} and Pennacchio, {Len A} and Avi Ma'ayan and Anna Sarkozy and Valentina Fodale and Serena Cecchetti and Alessio Cardinale and Joel Martin and Wendy Schackwitz and Anna Lipzen and Giuseppe Zampino and Laura Mazzanti and Digilio, {Maria C} and Simone Martinelli and Elisabetta Flex and Francesca Lepri and Bartholdi Deborah and Kerstin Kutsche and Ferrero, {Giovanni B} and Cecilia Anichini and Angelo Selicorni and Cesare Rossi and Romano Tenconi and Martin Zenker and Daniela Merlo and Bruno Dallapiccola and Ravi Iyengar and Paolo Bazzicalupo and Gelb, {Bruce D} and Marco Tartaglia",
year = "2009",
language = "Deutsch",
volume = "41",
pages = "1022--1026",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "9",

}

RIS

TY - JOUR

T1 - Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

AU - Cordeddu, Viviana

AU - Elia, Di Schiavi

AU - Pennacchio, Len A

AU - Ma'ayan, Avi

AU - Sarkozy, Anna

AU - Fodale, Valentina

AU - Cecchetti, Serena

AU - Cardinale, Alessio

AU - Martin, Joel

AU - Schackwitz, Wendy

AU - Lipzen, Anna

AU - Zampino, Giuseppe

AU - Mazzanti, Laura

AU - Digilio, Maria C

AU - Martinelli, Simone

AU - Flex, Elisabetta

AU - Lepri, Francesca

AU - Deborah, Bartholdi

AU - Kutsche, Kerstin

AU - Ferrero, Giovanni B

AU - Anichini, Cecilia

AU - Selicorni, Angelo

AU - Rossi, Cesare

AU - Tenconi, Romano

AU - Zenker, Martin

AU - Merlo, Daniela

AU - Dallapiccola, Bruno

AU - Iyengar, Ravi

AU - Bazzicalupo, Paolo

AU - Gelb, Bruce D

AU - Tartaglia, Marco

PY - 2009

Y1 - 2009

N2 - 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 SHOC2(S2G) in vitro enhanced MAPK activation in a cell type-specific fashion. Induction of SHOC2(S2G) 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.

AB - 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 SHOC2(S2G) in vitro enhanced MAPK activation in a cell type-specific fashion. Induction of SHOC2(S2G) 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.

M3 - SCORING: Zeitschriftenaufsatz

VL - 41

SP - 1022

EP - 1026

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 9

M1 - 9

ER -