MIM Entry: 176797
*176797 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 16; ZBTB16
;;ZINC FINGER PROTEIN 145; ZNF145;;
PROMYELOCYTIC LEUKEMIA ZINC FINGER; PLZF
PLZF/RARA FUSION GENE, INCLUDED
Chen et al. (1993) identified the PLZF gene on chromosome 11 as the
fusion partner of the retinoic acid receptor-alpha gene (RARA; 180240)
on chromosome 17 in a Chinese patient with acute promyelocytic leukemia
(APL; 612376) and a translocation t(11;17)(q23;21). Chen et al. (1993)
described the PLZF gene.
Reid et al. (1995) showed that murine PLZF is expressed at highest
levels in undifferentiated, multipotential hematopoietic progenitor
cells and its expression declines as cells become more mature and
committed to various hematopoietic lineages. In the human there is a
lack of PLZF protein expression in mature peripheral blood mononuclear
cells and high PLZF levels in the nuclei of CD34+ human bone marrow
progenitor cells. Unlike many transcription factors, PLZF protein in
these cells shows a distinct punctate distribution, suggesting its
compartmentalization in the nucleus.
Zhang et al. (1999) identified at least 4 alternative splicings (AS-I,
-II, -III, and -IV) within exon 1 of the PLZF gene. AS-I was detected in
most tissues tested, whereas AS-II, -III, and -IV were present in the
stomach, testis, and heart, respectively. Although splicing donor and
acceptor signals at exon-intron boundaries for AS-I and exons 1-6 were
classic (gt-ag), AS-II, -III, and -IV had atypical splicing sites. These
alternative splicings, nevertheless, maintained the open reading frame
and may encode isoforms with absence of important functional domains. In
mRNA species without AS-I, there is a relatively long 5-prime UTR of 6.0
kb. Zhang et al. (1999) determined that PLZF is a well-conserved gene
from C. elegans to human. PLZF paralogous sequences are found in the
human genome. The presence of 2 MLL/PLZF-like alignments on human
chromosomes 11q23 and 19 suggests a syntenic replication during
Kang et al. (2003) found that endogenous PLZF in a human promyelocytic
cell line was modified by conjugation with SUMO1 (601912) and that PLZF
colocalized with SUMO1 in the nucleus of transfected human embryonic
kidney cells. Site-directed mutagenesis identified lys242 in
transcriptional repression domain-2 as the site of PLZF sumoylation.
Reporter gene assays suggested that SUMO1 modification of lys242 was
required for transcriptional repression by PLZF, and electrophoretic
mobility shift assays showed sumoylation increased the DNA-binding
activity of PLZF. PLZF-mediated regulation of the cell cycle and
transcriptional repression of the cyclin A2 gene (CCNA2; 123835) were
also dependent on sumoylation of PLZF on lys242.
Ikeda et al. (2005) found that PLZF was 1 of 24 genes upregulated during
osteoblastic differentiation of cultured OPLL (602475) ligament cells.
PLZF was highly expressed during osteoblastic differentiation in all
ligament and mesenchymal stem cells examined. Silencing of the PLZF gene
by small interfering RNA in human and mouse mesenchymal stem cells
reduced expression of osteoblast-specific genes, such as alkaline
phosphatase (ALPL; 171760), collagen 1A1 (COL1A1; 120150), Cbfa1 (RUNX2;
600211), and osteocalcin (BGLAP; 112260). PLZF expression was unaffected
by the addition of BMP2 (112261), and BMP2 expression was not affected
by PLZF expression. In a mouse mesenchymal cell line, overexpression of
PLZF increased expression of Cbfa1 and Col1a1; on the other hand, CBFA1
overexpression did not affect expression of Plzf. Ikeda et al. (2005)
concluded that PLZF plays a role in early osteoblastic differentiation
and is an upstream regulator of CBFA1.
Using yeast 2-hybrid analysis and protein pull-down assays, Rho et al.
(2006) showed that PLZF interacted with the CCS3 isoform of EEF1A1
(130590). Mutation analysis revealed that repressor domain-2 and the
zinc finger domain of PLZF were required for the interaction. CCS3 was
required for the transcriptional effects of PLZF in reporter gene
Tissing et al. (2007) found that 8 hours of prednisolone treatment
altered expression of 51 genes in leukemic cells from children with
precursor-B- or T-acute lymphoblastic leukemia compared with nonexposed
cells. The 3 most highly upregulated genes were FKBP5 (602623), ZBTB16,
and TXNIP (606599), which were upregulated 35.4-, 8.8-, and 3.7-fold,
Using microarray analysis, Good and Tangye (2007) showed that naive
splenic B cells expressed higher levels of transcription factors KLF4
(602253), KLF9 (602902), and PZLF compared with memory B cells.
Activation of naive B cells through CD40 (109535) and B-cell receptor
downregulated expression of these cellular quiescence-associated
transcription factors. Overexpression of KLF4, KLF9, and PZLF in memory
B cells delayed their entry into cell division and proliferation. Good
and Tangye (2007) concluded that memory B cells undergo a rewiring
process that results in a significantly reduced activation threshold
compared with naive B cells, allowing them to enter division more
quickly, to differentiate into Ig-secreting plasma cells, and to more
rapidly produce antibodies.
- PLZF/RARA Fusion Protein
Chen et al. (1994) cloned cDNAs encoding PLZF-RARA chimeric proteins and
studied their transactivating activities. A 'dominant-negative' effect
was observed when PLZF-RARA fusion proteins were cotransfected with
vectors expressing RARA and retinoid X receptor alpha (RXRA; 180245).
These abnormal transactivation properties observed in retinoic
acid-sensitive myeloid cells strongly implicated the fusion proteins in
the molecular pathogenesis of acute promyelocytic leukemia (APL;
Lin et al. (1998) reported that the association of PLZF-RAR-alpha and
PML-RAR-alpha (see 102578) with the histone deacetylase complex (see
605164) helps to determine both the development of APL and the ability
of patients to respond to retinoids. Consistent with these observations,
inhibitors of histone deacetylase dramatically potentiate
retinoid-induced differentiation of retinoic acid-sensitive, and restore
retinoid responses of retinoic acid-resistant, APL cell lines. Lin et
al. (1998) concluded that oncogenic retinoic acid receptors mediate
leukemogenesis through aberrant chromatin acetylation, and that
pharmacologic manipulation of nuclear receptor cofactors may be a useful
approach in the treatment of human disease.
Grignani et al. (1998) demonstrated that both PML-RAR-alpha and
PLZF-RAR-alpha fusion proteins recruit the nuclear corepressor (NCOR;
see 600849)-histone deacetylase complex through the RAR-alpha CoR box.
PLZF-RAR-alpha contains a second, retinoic acid-resistant binding site
in the PLZF amino-terminal region. High doses of retinoic acid release
histone deacetylase activity from PML-RAR-alpha, but not from
PLZF-RAR-alpha. Mutation of the NCOR binding site abolishes the ability
of PML-RAR-alpha to block differentiation, whereas inhibition of histone
deacetylase activity switches the transcriptional and biologic effects
of PLZF-RAR-alpha from being an inhibitor to an activator of the
retinoic acid signaling pathway. Therefore, Grignani et al. (1998)
concluded that recruitment of histone deacetylase is crucial to the
transforming potential of APL fusion proteins, and the different effects
of retinoic acid on the stability of the PML-RAR-alpha and
PLZF-RAR-alpha corepressor complexes determines the differential
response of APLs to retinoic acid.
Guidez et al. (2007) identified CRABP1 (180230) as a target of both PLZF
and the RARA/PLZF fusion protein. PLZF repressed CRABP1 through
propagation of chromatin condensation from a remote intronic binding
element, culminating in silencing of the CRABP1 promoter. Although the
canonical PLZF/RARA oncoprotein had no effect on PLZF-mediated
repression, the reciprocal translocation product, RARA/PLZF, bound to
this remote binding site, recruited p300 (EP300; 602700), and induced
promoter hypomethylation and CRABP1 upregulation. Similarly, retinoic
acid-resistant murine blasts that expressed both fusion proteins
expressed much higher levels of Crabp1 than retinoic acid-sensitive
cells expressing Plzf/Rara alone. RARA/PLZF conferred retinoic acid
resistance to a retinoid-sensitive acute myeloid leukemia cell line in a
CRABP1-dependent fashion. Guidez et al. (2007) concluded that
upregulation of CRABP1 by RARA/PLZF contributes to retinoid resistance
Ahmad et al. (1998) reported the crystal structure of the BTB domain of
PLZF. The BTB domain (also known as the POZ domain) is an evolutionarily
conserved protein-protein interaction motif found at the N terminus of 5
to 10% of C2H2-type zinc finger transcription factors. The BTB domain
has transcriptional repression activity and interacts with components of
the histone deacetylase complex. The latter association provides a
mechanism of linking the transcription factor with enzymatic activities
that regulate chromatin conformation.
Zhang et al. (1999) sequenced a 201-kb genomic DNA region containing the
entire PLZF gene. Repeated elements accounted for 19.83%, and no obvious
coding information other than PLZF was present in this region. PLZF was
found to contain 6 exons and 5 introns, and the exon organization
corresponded well with protein domains. Zhang et al. (1999) identified
at least 4 alternative splicings (AS-I, -II, -III, and -IV) within exon
Van Schothorst et al. (1999) determined that the ZNF145 gene contains 7
exons and spans at least 120 kb. The untranslated exon 1 is located
within a CpG island, and several SP1 (189906)- and GATA1
(305371)-binding sites are upstream of exon 1.
By FISH, Chen et al. (1993) localized the PLZF gene to chromosome
Almost all patients with acute promyelocytic leukemia (APL; 612376) have
a chromosomal translocation t(15;17)(q22;q21). Molecular studies reveal
that the translocation results in a chimeric gene through fusion between
the promyelocytic leukemia gene (PML; 102578) on chromosome 15 and the
retinoic acid receptor-alpha gene (RARA; 180240) on chromosome 17. Chen
et al. (1993) reported studies of a Chinese patient with APL and a
variant translocation t(11;17)(q23;21) in which the PLZF gene on
chromosome 11q23.1 was fused to the RARA gene on chromosome 17. Similar
to t(15;17) APL, all-trans retinoic acid treatment produced an early
leukocytosis which was followed by a myeloid maturation, but the patient
died too early to achieve remission.
Zhang et al. (1999) characterized the chromosomal breakpoints and
joining sites in the index acute promyelocytic leukemia case with
t(11;17), reported by Chen et al. (1993). The results suggested the
involvement of a DNA damage-repair mechanism.
In a 12.75-year-old boy with skeletal defects, genital hypoplasia, and
mental retardation (612447), originally reported by Wieczorek et al.
(2002), Fischer et al. (2008) performed array-based CGH and identified
an approximately 8-Mb de novo deletion on the paternal chromosome 11, a
region containing about 72 genes. Sequence analysis of the candidate
gene ZBTB16 on the maternal allele revealed a missense mutation (M617V;
176797.0001); reporter gene assays showed that the mutation impairs
ZBTB16 function. No ZBTB16 mutation was found in 41 patients who had
clinical overlap with this patient, including patients with severe
hypoplasia of forearms.
Cheng et al. (1999) generated transgenic mice with PLZF-RARA and NPM
(164040)-RARA. PLZF-RARA transgenic animals developed chronic myeloid
leukemia-like phenotypes at an early stage in life (within 3 months in 5
of 6 mice), whereas 3 NPM-RARA transgenic mice showed a spectrum of
phenotypes from typical APL to chronic myeloid leukemia relatively late
in life (from 12 to 15 months). In contrast to bone marrow cells from
PLZF-RARA transgenic mice, those from NPM-RARA transgenic mice could be
induced to differentiate by all-trans-retinoic acid (ATRA). Cheng et al.
(1999) found that in interacting with nuclear coreceptors the 2 fusion
proteins had different ligand sensitivities, which may be the underlying
molecular mechanism for differential responses to ATRA. These data
clearly established the leukemogenic role of PLZF-RARA and NPM-RARA and
the importance of fusion receptor/corepressor interactions in the
pathogenesis as well as in determining different clinical phenotypes of
He et al. (2000) generated transgenic mice expressing RARA-PLZF and
PLZF-RARA in their promyelocytes. RARA-PLZF transgenic mice did not
develop leukemia. However, PLZF-RARA/RARA-PLZF double transgenic mice
developed leukemia with classic APL features. The authors demonstrated
that RARA-PLZF can interfere with PLZF transcriptional repression, and
that this is critical for APL pathogenesis, since leukemias in
PLZF-deficient/PLZF-RARA mutants and in PLZF-RARA/RARA-PLZF transgenic
mice were indistinguishable. Thus, both products of a cancer-associated
translocation are crucial in determining the distinctive features of the
Barna et al. (2000) generated Zfp145 -/- mice and showed that Plzf is
essential for patterning of the limb and axial skeleton. Inactivation of
the gene resulted in patterning defects affecting all skeletal
structures of the limb, including homeotic transformations of anterior
skeletal elements into posterior structures. They demonstrated that Plzf
acts as a growth-inhibitory and proapoptotic factor in the limb bud. The
expression of members of the Abdominal B (Abdb) Hox gene complex (see
142956), as well as genes encoding bone morphogenetic proteins (e.g.,
112267), was altered in the developing limb of the Zfp145 -/- mice. The
mice also exhibited anterior-directed homeotic transformation throughout
the axial skeleton with associated alterations in Hox gene expression.
Plzf is, therefore, a mediator of anterior-to-posterior patterning in
both the axial and appendicular skeleton and acts as a regulator of Hox
Barna et al. (2002) determined that the defects in Plzf -/- mice were
due to spatial, but not temporal, deregulation of the Abdb Hoxd complex.
They identified several Plzf-binding sites in Hoxd11 (142986) and showed
that Plzf bound Hoxd11 genomic DNA fragments as a dimer or possibly a
trimer, mostly when DNA loops were formed. Barna et al. (2002) also
found evidence of long-range interactions between distant Plzf-binding
sites within the Hoxd regulatory elements. Plzf mediated transcriptional
repression of a Hoxd reporter construct, and in the absence of Plzf,
there were increased acetylated histones on Hoxd regulatory regions.
Plzf showed dose-dependent transcriptional repression of a Hoxd reporter
in mouse anterior limb micromass cultures, but there was no repression
in posterior limb micromass cultures. Plzf also directly tethered the
polycomb protein Bmi1 (164831) on DNA, which antagonized posteriorizing
signals in the limb. Barna et al. (2002) concluded that recruitment of
histone deacetylases and polycomb proteins by PLZF favors transition
from euchromatin to heterochromatin.
Adult germline stem cells are capable of self-renewal, tissue
regeneration, and production of large numbers of differentiated progeny.
The mouse mutant 'luxoid' (lu) arose spontaneously and was mapped to
mouse chromosome 9 (Green, 1955), and was initially characterized by its
semidominant abnormalities and recessive skeletal and male infertility
phenotypes (Forsthoefel, 1958). Buaas et al. (2004) showed that the
mouse mutant luxoid affects adult germline stem cell self-renewal. Young
homozygous luxoid mutant mice produce limited numbers of normal
spermatozoa and then progressively lose their germline after birth.
Transplantation studies showed that germ cells of mutant mice did not
colonize recipient testes, suggesting that the defect is intrinsic to
the stem cells. Buaas et al. (2004) determined that the luxoid mutant
contains a nonsense mutation in the Plzf gene, a transcriptional
repressor that regulates the epigenetic state of undifferentiated cells.
They showed, furthermore, that Plzf is coexpressed with Oct4 (164177) in
undifferentiated spermatogonia. This was said to be the first gene found
to be required in germ cells for stem cell self-renewal in mammals.
Costoya et al. (2004) likewise showed that Plzf has a crucial role in
spermatogenesis. Expression of the gene was restricted to gonocytes and
undifferentiated spermatogonia and was absent in the tubules of W/W(v)
mutants that lack these cells. Mice lacking Plzf underwent a progressive
loss of spermatogonia with age, associated with increases in apoptosis
and subsequent loss of tubule structure but without overt
differentiation defects or loss of the supporting Sertoli cells.
Spermatogonia transplantation experiments revealed a depletion of
spermatogonia stem cells in the adult. These and other results
identified Plzf as a spermatogonia-specific transcription factor in the
testis that is required to regulate self-renewal and maintenance of the
stem cell pool.
Barna et al. (2005) identified a genetic interaction between Gli3
(165240) and Plzf that is required specifically at very early stages of
limb development for all proximal cartilage condensations in the
hindlimb (femur, tibia, fibula). Notably, distal condensations
comprising the foot were relatively unperturbed in Gli3/Plzf double
knockout mouse embryos. Barna et al. (2005) demonstrated that the
cooperative activity of Gli3 and Plzf establishes the correct temporal
and spatial distribution of chondrocyte progenitors in the proximal limb
bud independently of proximal-distal (P-D) patterning markers and
overall limb bud size. Moreover, the limb defects in the double knockout
embryos correlated with the transient death of a specific subset of
proximal mesenchymal cells that express bone morphogenetic protein
receptor type 1B (Bmpr1b; 603248) at the onset of limb development.
Barna et al. (2005) concluded that development of proximal and distal
skeletal elements is distinctly regulated during early limb bud
formation. The initial division of the vertebrate limb into 2 distinct
molecular domains is consistent with fossil evidence indicating that the
upper and lower extremities of the limb have different evolutionary
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
In a 12.75-year-old boy with skeletal defects, genital hypoplasia, and
mental retardation (612447), originally reported by Wieczorek et al.
(2002), Fischer et al. (2008) performed array-based CGH and identified
an approximately 8-Mb de novo deletion on the paternal chromosome 11.
Sequence analysis of the candidate gene ZBTB16 on the maternal allele
revealed a 1849A-G transition in exon 6, resulting in a met617-to-val
(M617V) substitution at a highly conserved residue within the eighth
zinc finger motif of the PLZF protein, predicted to destabilize the
alpha helix of the zinc finger that forms the contact with the DNA
duplex. Reporter gene assays showed that the mutant PLZF decreased
luciferase activity by only 10%, compared to an approximately 35%
decrease with wildtype PLZF, suggesting that this represents a
hypomorphic allele. The mutation was not found in 200 normal control
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Marla J. F. O'Neill - updated: 12/1/2008
Paul J. Converse - updated: 10/27/2008
Patricia A. Hartz - updated: 5/1/2008
Patricia A. Hartz - updated: 2/28/2008
Patricia A. Hartz - updated: 11/29/2007
Patricia A. Hartz - updated: 9/2/2005
Ada Hamosh - updated: 8/18/2005
Victor A. McKusick - updated: 6/14/2004
Ada Hamosh - updated: 5/1/2001
Ada Hamosh - updated: 4/30/2001
Stylianos E. Antonarakis - updated: 12/14/2000
Victor A. McKusick - updated: 5/27/2000
Victor A. McKusick - updated: 10/21/1999
Victor A. McKusick - updated: 7/13/1999
Victor A. McKusick - updated: 11/3/1998
Victor A. McKusick: 6/4/1993