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Форум
Биологические базы данных
Алфавитный указатель
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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
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Ссылки:
1. Острый промиелоцитарный лейкоз (APL, ПМЛ, ОПЛ)
2. PML ген
3. Gene: [17q112/RARA] retinoic acid receptor, alpha; acute promyelocytic leukemia breakpoint cluster region; [RAR APL ]
4. PML: введение
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