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7 authors, including:
Dorine Bellanger
Gaelle Pierron
Institut Curie
SEE PROFILE
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Jacques Ghysdael
Marc-Henri Stern
Institut Curie
Institut Curie
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417
WT
MTCP1
Survival
TEL-JAK2
0.6
P<10-9
MTCP1 TEL-JAK2
0.4
0.2
0
0
50
100
150
200
250
300
Time (days)
Accepted article preview online 19 September 2013; advance online publication, 11 October 2013
418
L653F V658F
JAK1
FERM
JH1
JH2
SH2
R629_D630del
M511I
Q501H_Q503H
A572V
L857P
A573V V722I
Y824D
V674A
c.1533G>A
c.1533G>C
c.1533G>T
AGATGACAT
JAK3 M511I
JAK3
K563_C565del
WT
CACAGGGATATTTC
JAK1
CACAKKKMYMTKKC
c.1886_1891del
CACATTTC
WT
TTCAGCCCCAATCCC
JAK3
TTCASCCCCAWTCCC
c.1503G>C
c.1509A>T
TTCACCCCCATTCCC
Figure 2. JAK1 and JAK3 mutations in T-PLL. (a) Localization of affected residues with missense (full circle) and deletion (full triangle) mutations
in JAK1 and JAK3 relative to the domain organization of JAK proteins: FERM (protein 4.1, ezrin, radixin, moesin), SH2 (SH2-like domain),
JH1 (JAK homology 1 kinase domain), JH2 (JAK homology 2 pseudokinase domain) and L (linker). (b) Chromatograms of the three mutations
c.1533 G4A/C/T leading to the hotspot JAK3M511I mutant kinase. (c) Chromatograms of complex JAK1 and JAK3 mutations (left panel)
elucidated after subcloning and sequencing (right panel). Nucleotides are numbered relative to the start codon.
419
ACKNOWLEDGEMENTS
We are indebted to the French hematologists who provided patient samples:
B Cazin (Lille); R Garand (Nantes); MJ Grange, V Leblond, F Nguyen Khac,
H Merle-Beral, F Valensi, B Varet, I Radford-Weiss, O Hermine, R Delarue, V Levy,
JC Brouet, P Rousselot (Paris); G Damaj (Creteil); X Troussard (Caen); S Daliphard,
P Cornillet (Reims); D Lusina (Aulnay); K Ghomari (Beauvais); C Bertout (Brest);
O Tournilhac (Clermond-Ferrand); M Maynadie (Dijon); V Izydirczyk (Le Havre);
E Callet-Bauchu, B Cofer (Lyon); F Lellouche (Quimper). This work was supported by
grants from the Institut National du Cancer (INCa), the Institut National de la Sante et
de la Recherche Medicale (INSERM) and the Institut Curie, Section de Recherche. This
work is a part of the Canceropole Ile-de-FranceMouse models of human cancer
program coordinated by M Giovannini. VJ is a recipient of grants from the Association
pour la Recherche sur le Cancer (ARC).
Accepted article preview online 19 September 2013; advance online publication, 4 October 2013