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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Sorcini, Mariella Bocchinfuso, Gianfranco Emanuel, Peter D. Foa, Robin Tartaglia, Marco Cordeddu, Viviana Stella, Lorenzo Flex, Elisabetta Petrucci, Tamara C. Gelb, Bruce D. Martinelli, Simone Burgt, Ineke van der Schoch, Claudia Zampino, Giuseppe Palleschi, Antonio |
| Description | Country affiliation: Italy Author Affiliation: Tartaglia M ( Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy. mtartaglia@iss.it) |
| Abstract | Germline mutations in PTPN11, the gene encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (NS) and the clinically related LEOPARD syndrome (LS), whereas somatic mutations in the same gene contribute to leukemogenesis. On the basis of our previously gathered genetic and biochemical data, we proposed a model that splits NS- and leukemia-associated PTPN11 mutations into two major classes of activating lesions with differential perturbing effects on development and hematopoiesis. To test this model, we investigated further the diversity of germline and somatic PTPN11 mutations, delineated the association of those mutations with disease, characterized biochemically a panel of mutant SHP-2 proteins recurring in NS, LS, and leukemia, and performed molecular dynamics simulations to determine the structural effects of selected mutations. Our results document a strict correlation between the identity of the lesion and disease and demonstrate that NS-causative mutations have less potency for promoting SHP-2 gain of function than do leukemia-associated ones. Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 2 |
| Volume Number | 78 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2006-02-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Intracellular Signaling Peptides And Proteins Genetics Leopard Syndrome Leukemia Noonan Syndrome Protein Tyrosine Phosphatases Amino Acid Sequence Cohort Studies Germ-line Mutation Chemistry Mutation Protein Conformation Protein Tyrosine Phosphatase, Non-receptor Type 11 Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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