NDLI: The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms

Content Provider	PubMed Central
Author	Jones, Amy V. Campbell, Peter J. Beer, Philip A. Schnittger, Susanne Vannucchi, Alessandro M. Zoi, Katerina Percy, Melanie J. Mcmullin, Mary Frances Scott, Linda M. Tapper, William Silver, Richard T. David, Oscier Harrison, Claire N. Grallert, Harald Kisialiou, Aliaksei Strike, Paul Chase, Andrew J. Green, Anthony R. Cross, Nicholas C. P.
Copyright Year	2010
Abstract	The 46/1 JAK2 haplotype predisposes to V617F-positive myeloproliferative neoplasms, but the underlying mechanism is obscure. We analyzed essential thrombocythemia patients entered into the PT-1 studies and, as expected, found that 46/1 was overrepresented in V617F-positive cases (n = 404) versus controls (n = 1492, P = 3.9 × 10−11). The 46/1 haplotype was also overrepresented in cases without V617F (n = 347, P = .009), with an excess seen for both MPL exon 10 mutated and V617F, MPL exon 10 nonmutated cases. Analysis of further MPL-positive, V617F-negative cases confirmed an excess of 46/1 (n = 176, P = .002), but no association between MPL mutations and MPL haplotype was seen. An excess of 46/1 was also seen in JAK2 exon 12 mutated cases (n = 69, P = .002), and these mutations preferentially arose on the 46/1 chromosome (P = .029). No association between 46/1 and clinical or laboratory features was seen in the PT-1 cohort either with or without V617F. The excess of 46/1 in JAK2 exon 12 cases is compatible with both the “hypermutability” and “fertile ground” hypotheses, but the excess in MPL-mutated cases argues against the former. No difference in sequence, splicing, or expression of JAK2 was found on 46/1 compared with other haplotypes, suggesting that any functional difference of JAK2 on 46/1, if it exists, must be relatively subtle.
Related Links	http://dx.doi.org/10.1182/blood-2009-08-236448
Ending Page	4523
Page Count	7
Starting Page	4517
File Format	PDF
ISSN	00064971
e-ISSN	15280020
Journal	Blood
Issue Number	22
Volume Number	115
Language	English
Publisher	American Society of Hematology
Publisher Date	2010-06-03
Access Restriction	Open
Rights Holder	American Society of Hematology
Subject Keyword	Immunology Cell Biology Biochemistry Hematology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Cell Biology Hematology Biochemistry Immunology

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms

Molecular mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2 V617F and Mpl expression

Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population

Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms

Improved targeting of JAK2 leads to increased therapeutic efficacy in myeloproliferative neoplasms

JAK2 46/1 haplotype analysis in myeloproliferative neoplasms and acute myeloid leukemia

Molecular insights into regulation of JAK2 in myeloproliferative neoplasms

JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms

Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population

The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms

Similar Documents

Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms

Molecular mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2 V617F and Mpl expression

Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population

Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms

Improved targeting of JAK2 leads to increased therapeutic efficacy in myeloproliferative neoplasms

JAK2 46/1 haplotype analysis in myeloproliferative neoplasms and acute myeloid leukemia

Molecular insights into regulation of JAK2 in myeloproliferative neoplasms

JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms

Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population

The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms