Gene: [15q22/PML] transcription factor PML (inducer of acute promyelocytic leukemia); promyelocytic leukemia; [MYL APL ]
COM | Analyzing the retinoic acid receptor alpha gene (GEM:17q112/RARA) in the t(15;17)(q22;q11.2-q12) translocation associated with acute promyelocytic leukemia (APL), de The-1990 identified a new gene on chromosome 15 which is involved with the RARA gene in the formation of a fusion product." |
SUM | The PML gene, involved in the breakpoint on chromosome 15, is a putative transcription factor: it contains a cysteine-rich motif that resembles a zinc finger DNA-binding domain common to several classes of transcriptional factors. Its physiologic role is unknown. Two fusion genes, PML-RARA and RARA-PML, are formed as a result of the characteristic translocation in acute promyelocytic leukemia (APL). Heterogeneity of the chromosome 15 breakpoints accounts for the diverse architecture of the PML-RARA mRNAs isolated from different APL patients, and alternative splicing of PML exons gives rise to multiple isoforms of the PML-RARA mRNAs even within a single patient. Alcalay-1992 investigated the organization and expression pattern of the RARA-PML gene in a series of APL patients. An RARA-PML transcript was present in most, but not all, APL patients. Among 70 patients with APL, Diverio-1992 found an abnormality in intron 2 of the RARA gene in all cases, with clustering of rearrangements within the 20-kb intronic region separating exons 2 and 3. A curious difference was found in the location of breakpoints in males and females: breakpoints at the 5-prime end of intron 2 of the RARA gene occurred in females and 3-prime breakpoints predominated in males." |
REF | EXP,ABR "Alcalay M &: PNAS, 89, 4840-4844,
1992 MOU,ABR,PAT,MOD "Brown D &: PNAS, 94, 2551-2556, 1997 COD,SEQ "Chang K-S &: Blood, 85, 3646-3653, 1995 EXP,ABR "de The H &: Cell, 66, 675-684, 1991 IDN,LOC,EXP,ABR "de The H &: Nature, 347, 558-561, 1990 EXP,ABR,PAT,MUT "Diverio D &: Blood, 79, 3331-3336, 1992 LIN,LOC "Wirtz MK &: Am J Med Genet, 65, 68-75, 1996 |
SWI | SWISSPROT: P29590; PML2 P29592; PML3 P29593; PMLB Q00755; PMLX P29591 |
KEY | hem, onc, trc, fus |
CLA | coding, basic |
LOC | 15 q22 |
MIM | MIM: 102578 |
SYN | MYL APL |
