Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

被引：117

作者：

Giardine, Belinda ^{[2
]}

Borg, Joseph ^{[3
,4
,5
]}

Higgs, Douglas R. ^{[6
]}

Peterson, Kenneth R. ^{[7
]}

Philipsen, Sjaak ^{[8
]}

Maglott, Donna ^{[9
]}

Singleton, Belinda K. ^{[10
]}

Anstee, David J. ^{[10
]}

Basak, A. Nazli ^{[11
]}

Clark, Barnaby ^{[12
]}

Costa, Flavia C. ^{[7
]}

Faustino, Paula ^{[13
]}

Fedosyuk, Halyna ^{[7
]}

Felice, Alex E. ^{[4
,5
]}

Francina, Alain ^{[14
]}

Galanello, Renzo ^{[15
]}

Gallivan, Monica V. E. ^{[16
]}

Georgitsi, Marianthi ^{[1
]}

Gibbons, Richard J. ^{[6
]}

Giordano, Piero C. ^{[17
]}

Harteveld, Cornelis L. ^{[17
]}

Hoyer, James D. ^{[18
]}

Jarvis, Martin ^{[19
]}

Joly, Philippe ^{[14
]}

Kanavakis, Emmanuel ^{[20
]}

Kollia, Panagoula ^{[21
]}

Menzel, Stephan ^{[12
]}

Miller, Webb ^{[2
]}

Moradkhani, Kamran ^{[22
,23
]}

Old, John ^{[24
]}

Papachatzopoulou, Adamantia ^{[25
]}

Papadakis, Manoussos N. ^{[26
]}

Papadopoulos, Petros ^{[8
]}

Pavlovic, Sonja ^{[27
]}

Perseu, Lucia ^{[28
]}

Radmilovic, Milena ^{[27
]}

Riemer, Cathy ^{[2
]}

Satta, Stefania ^{[15
]}

Schrijver, Iris ^{[29
]}

Stojiljkovic, Maja ^{[27
]}

Thein, Swee Lay ^{[12
]}

Traeger-Synodinos, Jan ^{[20
]}

Tully, Ray ^{[9
]}

Wada, Takahito ^{[30
]}

Waye, John S. ^{[31
,32
]}

Wiemann, Claudia ^{[33
]}

Zukic, Branka ^{[27
]}

Chui, David H. K. ^{[34
,35
]}

Wajcman, Henri ^{[22
,23
,36
]}

Hardison, Ross C. ^{[2
,37
]}

机构：

[1] Univ Patras, Dept Pharm, Sch Hlth Sci, Patras, Greece

[2] Penn State Univ, Ctr Comparat Genom & Bioinformat, Philadelphia, PA USA

[3] Univ Malta, Dept Appl Biomed Sci, Msida, Malta

[4] Univ Malta, Dept Physiol & Biochem, Lab Mol Genet, Msida, Malta

[5] Mater Dei Hosp, Sect Pathol, Thalassemia Clin, Msida, Malta

[6] Weatherall Inst Mol Med, MRC, Mol Haematol Unit, Oxford, England

[7] Univ Kansas, Med Ctr, Dept Biochem & Mol Biol, Kansas City, KS USA

[8] Erasmus Univ, Fac Med & Hlth Sci, Med Ctr, Dept Cell Biol, NL-3000 DR Rotterdam, Netherlands

[9] NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20892 USA

[10] Bristol Inst Transfus Sci BITS, Natl Hlth Serv NHS Blood & Transplant, Bristol, Avon, England

[11] Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey

[12] Kings Coll London, London WC2R 2LS, England

[13] Inst Nacl Saude Dr Ricardo Jorge, Unidade Invest & Desenvolvimento, Dept Genet, Lisbon, Portugal

[14] Edouard Herriot Univ Hosp, Dept Biochem, Lyon, France

[15] Univ Cagliari, Dipartimento Sci Biomed & Biotecnol, Cagliari, Sardinia, Italy

[16] Quest Diagnost Nichols Inst, Chantilly, VA USA

[17] Leiden Univ, Hemoglobinopathies Lab, Human & Clin Genet Dept, Med Ctr, Leiden, Netherlands

[18] Mayo Clin, Div Hematopathol, Rochester, MN USA

[19] N Middlesex Univ Hosp, London, England

[20] Univ Athens, Sch Med, St Sophias Childrens Hosp, Athens 11528, Greece

[21] Univ Athens, Dept Biol, Sch Phys Sci, Athens 11528, Greece

[22] Hosp Henri Mondor, Creteil, France

[23] Albert Chenevier Grp, Dept Biochem & Genet, Cretile, France

[24] Churchill Hosp, Natl Haemoglobinopathy Reference Lab, Oxford Haemophilia Ctr, Oxford OX3 7LJ, England

[25] Univ Patras, Fac Med, Lab Gen Biol, Patras, Greece

[26] Laikon Gen Hosp, Unit Prenatal Diag, Ctr Thalassemia, Athens, Greece

[27] Univ Belgrade, Inst Mol Genet & Genet Engn, Belgrade, Serbia

[28] Ist Neurogenet & Neurofarmacol, Natl Res Council, Cagliari, Sardinia, Italy

[29] Stanford Univ, Sch Med, Dept Pathol & Pediat, Stanford, CA 94305 USA

[30] Kanagawa Childrens Med Ctr, Div Neurol, Kanagawa, Japan

[31] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada

[32] Hamilton Reg Lab Program, Hamilton, ON, Canada

[33] Med Versorgungszentrum MVZ, Lab Prof Seelig, Karlsruhe, Germany

[34] Boston Univ, Sch Med, Dept Med, Boston, MA 02118 USA

[35] Boston Univ, Sch Med, Dept Pathol, Boston, MA 02118 USA

[36] Hop Henri Mondor, INSERM, U955, F-94010 Creteil, France

[37] Penn State Univ, Dept Biochem & Mol Biol, Philadelphia, PA USA

来源：

NATURE GENETICS | 2011年 / 43卷 / 04期

基金：

美国国家卫生研究院;

关键词：

SICKLE-CELL-ANEMIA; FACTOR KLF1 CAUSES; FETAL-HEMOGLOBIN; ALPHA-THALASSEMIA; MUTATIONS; GLOBIN; VARIANTS; DATABASE; ERYTHROPOIESIS; DETERMINANTS;

D O I：

10.1038/ng.785

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories. A total of 1,941 unique genetic variants in 37 genes, encoding globins and other erythroid proteins, are currently documented in these databases, with reciprocal attribution of microcitations to data contributors. Our project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system. It has demonstrably increased the reporting of human variants, leading to a comprehensive online resource for systematically describing human genetic variation in the globin genes and other genes contributing to hemoglobinopathies and thalassemias. The principles established here will serve as a model for other systems and for the analysis of other common and/or complex human genetic diseases.

引用

页码：295 / 302

页数：8

共 33 条

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