Table 1 Candidate genes for the 5q−... | American Society of Hematology

Table 1

Candidate genes for the 5q− syndrome and other MDS/AML with the del(5q): localization and mouse knockout phenotypes

Gene	Chromosomal location	Common 5q chromosomal deletion*	CDR 1 (Lai et al, 2001⁷⁴)†	CDR 2 (Boultwood et al, 2002²²)‡	Hematological phenotype of knockout mouse for each candidate gene
APC	5q22	yes	no	no	MDS/myeloproliferative phenotype; anemia, macrocytosis, monocytosis^72,94
IRF1	5q31.1	yes	no	no	Impaired myelopoiesis⁹⁵
EGR1	5q31.2	yes	yes	no	No hematological phenotype; however, Egr1^+/− mice, treated with DNA alkylating agents develop T-cell lymphoma or MPD⁷¹
CTNNA1 (α-catenin)	5q31.2	yes	no	no	No mouse knockout reported for bone marrow cells⁶⁸
DIAPH1	5q31.3	yes	no	no	Myeloproliferative defects⁹⁶
CSF1R	5q32	yes	no	yes	Mononuclear phagocytic deficiency, increased primitive progenitor cell frequency⁹⁷
miR-145	5q32	yes	no	yes	Thrombocytosis, neutropenia, megakaryocytic, dysplasia⁶⁰
miR-146a	5q33.3	yes	no	no, adjacent to distal border of CDR	Thrombocytosis, neutropenia, megakaryocytic, dysplasia⁶⁰
miR-143 and miR-145	5q32	yes	no	yes	Structural modifications of aorta; hematological phenotype not known⁶⁵
SPARC	5q33	yes	no	yes	Thrombocytopenia, reduced erythroid colony formation⁶⁹; no phenotype³⁶
FAT2	5q33	yes	no	yes	No phenotype³⁶
RPS14	5q33	yes	no	yes	Cd74-Nid67 deletion (encompassing Rps14 and Rbm22) causes 5q− syndrome phenotype (macrocytic anemia, monolobulated, megakaryocytes)³⁶
RBM22	5q33	yes	no	yes	As for comment in row above³⁶
NPM1	5q35.1	no	no	no	Myelodysplasia⁹⁸; myeloid malignancies⁷³

Gene	Chromosomal location	Common 5q chromosomal deletion*	CDR 1 (Lai et al, 2001⁷⁴)†	CDR 2 (Boultwood et al, 2002²²)‡	Hematological phenotype of knockout mouse for each candidate gene
APC	5q22	yes	no	no	MDS/myeloproliferative phenotype; anemia, macrocytosis, monocytosis^72,94
IRF1	5q31.1	yes	no	no	Impaired myelopoiesis⁹⁵
EGR1	5q31.2	yes	yes	no	No hematological phenotype; however, Egr1^+/− mice, treated with DNA alkylating agents develop T-cell lymphoma or MPD⁷¹
CTNNA1 (α-catenin)	5q31.2	yes	no	no	No mouse knockout reported for bone marrow cells⁶⁸
DIAPH1	5q31.3	yes	no	no	Myeloproliferative defects⁹⁶
CSF1R	5q32	yes	no	yes	Mononuclear phagocytic deficiency, increased primitive progenitor cell frequency⁹⁷
miR-145	5q32	yes	no	yes	Thrombocytosis, neutropenia, megakaryocytic, dysplasia⁶⁰
miR-146a	5q33.3	yes	no	no, adjacent to distal border of CDR	Thrombocytosis, neutropenia, megakaryocytic, dysplasia⁶⁰
miR-143 and miR-145	5q32	yes	no	yes	Structural modifications of aorta; hematological phenotype not known⁶⁵
SPARC	5q33	yes	no	yes	Thrombocytopenia, reduced erythroid colony formation⁶⁹; no phenotype³⁶
FAT2	5q33	yes	no	yes	No phenotype³⁶
RPS14	5q33	yes	no	yes	Cd74-Nid67 deletion (encompassing Rps14 and Rbm22) causes 5q− syndrome phenotype (macrocytic anemia, monolobulated, megakaryocytes)³⁶
RBM22	5q33	yes	no	yes	As for comment in row above³⁶
NPM1	5q35.1	no	no	no	Myelodysplasia⁹⁸; myeloid malignancies⁷³

Indicates whether a particular gene is deleted in the common 5q13-q33 chromosome deletion.

Indicates whether a particular gene is deleted in CDR1.

Indicates whether a particular gene is deleted in CDR2.