Erratum: Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis (American Journal of Human Genetics (2016) 99(2) (481–488)(S0002929716302208)(10.1016/j.ajhg.2016.06.016));Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

American Journal of Human Genetics

Volumn 99, Issue 2, 2016, Pages 481-488

  Polfus, Linda M ^a   Khajuria, Rajiv K ^b,c,d   Schick, Ursula M ^e   Pankratz, Nathan ^f   Pazoki, Raha ^g   Brody, Jennifer A ^h   Chen, Ming Huei ⁱ   Auer, Paul L ^j   Floyd, James S ^h   Huang, Jie ^k   Lange, Leslie ^l   van Rooij, Frank J A ^g   Gibbs, Richard A ^m   Metcalf, Ginger ^m   Muzny, Donna ^m   Veeraraghavan, Narayanan ^m   Walter, Klaudia ^k   Chen, Lu ^k,n   Yanek, Lisa ^o   Becker, Lewis C ^o   Peloso, Gina M ^p   Wakabayashi, Aoi ^b,c   Kals, Mart ^q   Metspalu, Andres ^q   Esko, Tõnu ^q   Fox, Keolu ^r   Wallace, Robert ^s   Franceshini, Nora ^l   Matijevic, Nena ^t   Rice, Kenneth M ^h   Bartz, Traci M ^h   Lyytikäinen, Leo Pekka ^u   Kähönen, Mika ^u   Lehtimäki, Terho ^u   Raitakari, Olli T ^v   Li Gao, Ruifang ^w   Mook Kanamori, Dennis O ^w,x   Lettre, Guillaume ^y   van Duijn, Cornelia M ^g   Franco, Oscar H ^g   Rich, Stephen S ^z   Rivadeneira, Fernando ^g   Hofman, Albert ^g   Uitterlinden, André G ^g   Wilson, James G ^aa   Psaty, Bruce M ^h,ab   Soranzo, Nicole ^k,n   Dehghan, Abbas ^g   Boerwinkle, Eric ^a   Zhang, Xiaoling ^ac   Johnson, Andrew D ^ad   O'Donnell, Christopher J ^ad   Johnsen, Jill M ^ae   Reiner, Alexander P ^af   Ganesh, Santhi K ^ag   Sankaran, Vijay G ^b,c   more..

^a UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

ⁱ BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF WISCONSIN MILWAUKEE   (United States)

^k WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^l UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^m BAYLOR COLLEGE OF MEDICINE   (United States)

ⁿ UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^o JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^p MASSACHUSETTS GENERAL HOSPITAL   (United States)

^q UNIVERSITY OF TARTU   (Estonia)

^r UNIVERSITY OF WASHINGTON   (United States)

^s UNIVERSITY OF IOWA   (United States)

^t UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^u TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^v UNIVERSITY OF TURKU   (Finland)

^w LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^x KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^y MONTREAL HEART INSTITUTE   (Canada)

^z UNIVERSITY OF VIRGINIA   (United States)

^aa UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^ab CENTER FOR HEALTH STUDIES   (United States)

^ac BOSTON UNIVERSITY   (United States)

^ad FRAMINGHAM HEART STUDY   (United States)

^ae Bloodworks Northwest Research Institute   (United States)

^af Fred Hutchinson Cancer Research Center   (United States)

^ag UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; ALPHA ACTININ 4; CARBAMOYL PHOSPHATE SYNTHASE; CRISPR ASSOCIATED PROTEIN; FIBRINOGEN; GFI1B PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HOMOCYSTEINE; MMACHC PROTEIN; MRPL43 PROTEIN; MYOM2 PROTEIN; N ACETYLGLUTAMIC ACID; PHORBOL 13 ACETATE 12 MYRISTATE; PROTEIN; UNCLASSIFIED DRUG; GFI1B PROTEIN, HUMAN; ONCOPROTEIN; REPRESSOR PROTEIN;

ALTERNATIVE RNA SPLICING; ARTICLE; BLOOD CELL; COMPUTER MODEL; CRISPR CAS SYSTEM; FOLLOW UP; GENE; GENE LOCUS; GENE REPLICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GFI1B GENE; HEMATOPOIESIS; HEMATOPOIETIC STEM CELL; HUMAN; HUMAN CELL; MEGAKARYOCYTE; PRIORITY JOURNAL; QUANTITATIVE TRAIT; STEM CELL; THROMBOCYTE COUNT; WHOLE EXOME SEQUENCE; CYTOLOGY; DNA MUTATIONAL ANALYSIS; EXOME; GENE EDITING; GENETICS; THROMBOCYTE;

ALTERNATIVE SPLICING; BLOOD PLATELETS; CRISPR-CAS SYSTEMS; DNA MUTATIONAL ANALYSIS; EXOME; GENE EDITING; GENETIC LOCI; HEMATOPOIESIS; HEMATOPOIETIC STEM CELLS; HUMANS; MEGAKARYOCYTES; PLATELET COUNT; PROTO-ONCOGENE PROTEINS; REPRESSOR PROTEINS;

EID: 84994157724     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.08.002     Document Type: Erratum

References (33)

1. 1 Okada, Y., Kamatani, Y., Common genetic factors for hematological traits in humans. J. Hum. Genet. 57 (2012), 161–169.
2. 2 Ganesh, S.K., Zakai, N.A., van Rooij, F.J., Soranzo, N., Smith, A.V., Nalls, M.A., Chen, M.H., Kottgen, A., Glazer, N.L., Dehghan, A., et al. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat. Genet. 41 (2009), 1191–1198.
3. 3 Soranzo, N., Spector, T.D., Mangino, M., Kühnel, B., Rendon, A., Teumer, A., Willenborg, C., Wright, B., Chen, L., Li, M., et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat. Genet. 41 (2009), 1182–1190.
4. 4 Auer, P.L., Teumer, A., Schick, U., O'Shaughnessy, A., Lo, K.S., Chami, N., Carlson, C., de Denus, S., Dubé, M.P., Haessler, J., et al. Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nat. Genet. 46 (2014), 629–634.
5. 5 Ulirsch, J.C., Nandakumar, S.K., Wang, L., Giani, F.C., Zhang, X., Rogov, P., Melnikov, A., McDonel, P., Do, R., Mikkelsen, T.S., Sankaran, V.G., Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. Cell 165 (2016), 1530–1545.
6. 6 Shiohara, M., Shigemura, T., Saito, S., Tanaka, M., Yanagisawa, R., Sakashita, K., Asada, H., Ishii, E., Koike, K., Chin, M., et al. Ela2 mutations and clinical manifestations in familial congenital neutropenia. J. Pediatr. Hematol. Oncol. 31 (2009), 319–324.
7. 7 Minelli, A., Maserati, E., Rossi, G., Bernardo, M.E., De Stefano, P., Cecchini, M.P., Valli, R., Albano, V., Pierani, P., Leszl, A., et al. Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies. Genes Chromosomes Cancer 40 (2004), 165–171.
8. 8 Sankaran, V.G., Gallagher, P.G., Applications of high-throughput DNA sequencing to benign hematology. Blood 122 (2013), 3575–3582.
9. 9 Albers, C.A., Cvejic, A., Favier, R., Bouwmans, E.E., Alessi, M.C., Bertone, P., Jordan, G., Kettleborough, R.N., Kiddle, G., Kostadima, M., et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat. Genet. 43 (2011), 735–737.
10. 10 Johnsen, J.M., Nickerson, D.A., Reiner, A.P., Massively parallel sequencing: the new frontier of hematologic genomics. Blood 122 (2013), 3268–3275.
11. 11 Giani, F.C., Fiorini, C., Wakabayashi, A., Ludwig, L.S., Salem, R.M., Jobaliya, C.D., Regan, S.N., Ulirsch, J.C., Liang, G., Steinberg-Shemer, O., et al. Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells. Cell Stem Cell 18 (2016), 73–78.
12. 12 Sankaran, V.G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.A., Beggs, A.H., Sieff, C.A., Orkin, S.H., Nathan, D.G., Lander, E.S., Gazda, H.T., Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J. Clin. Invest. 122 (2012), 2439–2443.
13. 13 Köttgen, A., Pattaro, C., Böger, C.A., Fuchsberger, C., Olden, M., Glazer, N.L., Parsa, A., Gao, X., Yang, Q., Smith, A.V., et al. New loci associated with kidney function and chronic kidney disease. Nat. Genet. 42 (2010), 376–384.
14. 14 Paré, G., Chasman, D.I., Parker, A.N., Zee, R.R., Mälarstig, A., Seedorf, U., Collins, R., Watkins, H., Hamsten, A., Miletich, J.P., Ridker, P.M., Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. Circ Cardiovasc Genet 2 (2009), 142–150.
15. 15 Summar, M.L., Gainer, J.V., Pretorius, M., Malave, H., Harris, S., Hall, L.D., Weisberg, A., Vaughan, D.E., Christman, B.W., Brown, N.J., Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function. Hypertension 43 (2004), 186–191.
16. 16 Pearson, D.L., Dawling, S., Walsh, W.F., Haines, J.L., Christman, B.W., Bazyk, A., Scott, N., Summar, M.L., Neonatal pulmonary hypertension—urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. N. Engl. J. Med. 344 (2001), 1832–1838.
17. 17 Sabater-Lleal, M., Huang, J., Chasman, D., Naitza, S., Dehghan, A., Johnson, A.D., Teumer, A., Reiner, A.P., Folkersen, L., Basu, S., et al. VTE Consortium STROKE Consortium Wellcome Trust Case Control Consortium 2 (WTCCC2) C4D Consortium, CARDIoGRAM Consortium. Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. Circulation 128 (2013), 1310–1324.
18. 18 Catellier, D.J., Aleksic, N., Folsom, A.R., Boerwinkle, E., Atherosclerosis Risk in Communities (ARIC) Carotid MRI flow cytometry study of monocyte and platelet markers: intraindividual variability and reliability. Clin. Chem. 54 (2008), 1363–1371.
19. 19 Summar, M.L., Hall, L., Christman, B., Barr, F., Smith, H., Kallianpur, A., Brown, N., Yadav, M., Willis, A., Eeds, A., et al. Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I. Mol. Genet. Metab. 81:Suppl 1 (2004), S12–S19.
20. 20 Zhang, X., Joehanes, R., Chen, B.H., Huan, T., Ying, S., Munson, P.J., Johnson, A.D., Levy, D., O'Donnell, C.J., Identification of common genetic variants controlling transcript isoform variation in human whole blood. Nat. Genet. 47 (2015), 345–352.
21. 21 Xiong, H.Y., Alipanahi, B., Lee, L.J., Bretschneider, H., Merico, D., Yuen, R.K., Hua, Y., Gueroussov, S., Najafabadi, H.S., Hughes, T.R., et al. RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science, 347, 2015, 1254806.
22. 22 Cho, S., Hoang, A., Sinha, R., Zhong, X.Y., Fu, X.D., Krainer, A.R., Ghosh, G., Interaction between the RNA binding domains of Ser-Arg splicing factor 1 and U1-70K snRNP protein determines early spliceosome assembly. Proc. Natl. Acad. Sci. USA 108 (2011), 8233–8238.
23. 23 Foudi, A., Kramer, D.J., Qin, J., Ye, D., Behlich, A.S., Mordecai, S., Preffer, F.I., Amzallag, A., Ramaswamy, S., Hochedlinger, K., et al. Distinct, strict requirements for Gfi-1b in adult bone marrow red cell and platelet generation. J. Exp. Med. 211 (2014), 909–927.
24. 24 Randrianarison-Huetz, V., Laurent, B., Bardet, V., Blobe, G.C., Huetz, F., Duménil, D., Gfi-1B controls human erythroid and megakaryocytic differentiation by regulating TGF-beta signaling at the bipotent erythro-megakaryocytic progenitor stage. Blood 115 (2010), 2784–2795.
25. 25 Saleque, S., Cameron, S., Orkin, S.H., The zinc-finger proto-oncogene Gfi-1b is essential for development of the erythroid and megakaryocytic lineages. Genes Dev. 16 (2002), 301–306.
26. 26 Laurent, B., Randrianarison-Huetz, V., Frisan, E., Andrieu-Soler, C., Soler, E., Fontenay, M., Dusanter-Fourt, I., Duménil, D., A short Gfi-1B isoform controls erythroid differentiation by recruiting the LSD1-CoREST complex through the dimethylation of its SNAG domain. J. Cell Sci. 125 (2012), 993–1002.
27. 27 Ludwig, L.S., Gazda, H.T., Eng, J.C., Eichhorn, S.W., Thiru, P., Ghazvinian, R., George, T.I., Gotlib, J.R., Beggs, A.H., Sieff, C.A., et al. Altered translation of GATA1 in Diamond-Blackfan anemia. Nat. Med. 20 (2014), 748–753.
28. 28 Stevenson, W.S., Morel-Kopp, M.C., Chen, Q., Liang, H.P., Bromhead, C.J., Wright, S., Turakulov, R., Ng, A.P., Roberts, A.W., Bahlo, M., Ward, C.M., GFI1B mutation causes a bleeding disorder with abnormal platelet function. J. Thromb. Haemost. 11 (2013), 2039–2047.
29. 29 Monteferrario, D., Bolar, N.A., Marneth, A.E., Hebeda, K.M., Bergevoet, S.M., Veenstra, H., Laros-van Gorkom, B.A., MacKenzie, M.A., Khandanpour, C., Botezatu, L., et al. A dominant-negative GFI1B mutation in the gray platelet syndrome. N. Engl. J. Med. 370 (2014), 245–253.
30. 30 Chen, L., Kostadima, M., Martens, J.H., Canu, G., Garcia, S.P., Turro, E., Downes, K., Macaulay, I.C., Bielczyk-Maczynska, E., Coe, S., et al., BRIDGE Consortium. Transcriptional diversity during lineage commitment of human blood progenitors. Science, 345, 2014, 1251033.
31. 31 Vassen, L., Khandanpour, C., Ebeling, P., van der Reijden, B.A., Jansen, J.H., Mahlmann, S., Dührsen, U., Möröy, T., Growth factor independent 1b (Gfi1b) and a new splice variant of Gfi1b are highly expressed in patients with acute and chronic leukemia. Int. J. Hematol. 89 (2009), 422–430.
32. 32 Koldehoff, M., Zakrzewski, J.L., Beelen, D.W., Elmaagacli, A.H., Additive antileukemia effects by GFI1B- and BCR-ABL-specific siRNA in advanced phase chronic myeloid leukemic cells. Cancer Gene Ther. 20 (2013), 421–427.
33. 33 Thon, J.N., Medvetz, D.A., Karlsson, S.M., Italiano, J.E. Jr., Road blocks in making platelets for transfusion. J. Thromb. Haemost. 13:Suppl 1 (2015), S55–S62.