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 SOX9
Homo sapiens
 HIF1A
Homo sapiens
 Pax6
Mus musculus
 PAX6
Homo sapiens
 Snai2
Mus musculus
 PPARA
Homo sapiens
 Ppara
Mus musculus
 Thrb
Mus musculus
 SNAI2
Homo sapiens
 Tbr1
Mus musculus
Transcription Factor Encyclopedia  BETA
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Genetics

Aberrant forms of RARA are frequently found in patients with acute promyelocytic leukemia (APL) due to chromosomal translocations resulting in replacement of a portion of the N-terminal region of RARA by sequences from other proteins.[1] The most common translocation in APL is the t(15;17) translocation resulting in a PML-RARA fusion, but translocations involving other genes, including PLZF, NPM and NUMA are also found. The PML-RARalpha and PLZF-RARalpha fusion proteins have enhanced ability to form homodimers, and may thus have a different repertoire of target genes from the unfused receptor.[2] The PML-RARalpha and PLZF-RARalpha fusion proteins induce aberrant histone acetylation, and inhibitors of histone deacetylase dramatically potentiate retinoid-induced differentiation of RA-sensitive, and restore responses of RA-resistant APL cell lines.[3][4]

Although RAR alpha 1 is the predominant isoform, RAR alpha 1-null mice appear normal. However, targeted disruption of the whole RAR alpha gene results in early postnatal lethality and testis degeneration.[5][6]

References
  1. Zelent A et al. Translocations of the RARalpha gene in acute promyelocytic leukemia. Oncogene, 20(49):7186-203. (PMID 11704847)
  2. Kamashev D et al. PML-RARA-RXR oligomers mediate retinoid and rexinoid/cAMP cross-talk in acute promyelocytic leukemia cell differentiation. J. Exp. Med., 199(8):1163-74. (PMID 15096541)
  3. Lin RJ et al. Role of the histone deacetylase complex in acute promyelocytic leukaemia. Nature, 391(6669):811-4. (PMID 9486654)
  1. Martens JH et al. PML-RARalpha/RXR Alters the Epigenetic Landscape in Acute Promyelocytic Leukemia. Cancer Cell, 17(2):173-85. (PMID 20159609)
  2. Li E et al. Normal development and growth of mice carrying a targeted disruption of the alpha 1 retinoic acid receptor gene. Proc. Natl. Acad. Sci. U.S.A., 90(4):1590-4. (PMID 7679509)
  3. Lufkin T et al. High postnatal lethality and testis degeneration in retinoic acid receptor alpha mutant mice. Proc. Natl. Acad. Sci. U.S.A., 90(15):7225-9. (PMID 8394014)
MeSH cloud (automatically populated)
About this section
The MeSH cloud below displays MeSH terms that are associated with this transcription factor. The physical size of the terms reflect the significance of their association with the transcription factor as determined by the Fisher's Exact Test. It should be noted that these associations do not necessarily imply a positive correlation between the described MeSH term and this transcription factor. For instance, if the MeSH term "apoptosis" occurs, it may indicate that this transcription factor can induce apoptosis (positive correlation), or prevent apoptosis (negative correlation). Methods: The transcription factor is mapped to a set of Pubmed publications through the gene-to-pubmed association as provided by NCBI. Then, a collection of MeSH terms associated with the papers are compiled, along with the frequency of each MeSH term. The Fisher's Exact Test is conducted on the frequency of each term in the collection, versus its average frequency, to determine its significance in the collection. More information on MeSH can be found on the MeSH homepage.
MeSH term Fisher's exact p-value
1 Leukemia, Promyelocytic, Acute 4.7 x 10-95
2 Translocation, Genetic 2.7 x 10-26
3 Cleft Lip 4.9 x 10-6
4 Breast Neoplasms 1.6 x 10-5
5 Cleft Palate 2.0 x 10-5
6 Chromosome Deletion 4.7 x 10-5
7 Cell Transformation, Neoplastic 0.00035
8 Genetic Predisposition to Disease 0.0025
9 Stomach Neoplasms 0.0045
10 Prostatic Intraepithelial Neoplasia 0.0095
11 Preleukemia 0.012
12 Hyperopia 0.023
13 Chromosome Inversion 0.035
14 Prostatic Neoplasms 0.037
15 Esophageal Neoplasms 0.044
16 Ventricular Remodeling 0.046
17 Neoplasms, Hormone-Dependent 0.047
18 Colonic Polyps 0.049
MeSH term Fisher's exact p-value
1 Leukemia, Promyelocytic, Acute 4.7 x 10-95
2 Leukemia, Myeloid, Acute 2.8 x 10-67
3 Leukemia, Myeloid 4.5 x 10-64
4 Leukemia 9.2 x 10-51
5 Translocation, Genetic 2.7 x 10-26
6 Neoplasms by Histologic Type 4.9 x 10-22
7 Chromosome Aberrations 7.0 x 10-21
8 Neoplasms 2.4 x 10-19
9 Cleft Lip 4.9 x 10-6
10 Breast Neoplasms 1.6 x 10-5
11 Cleft Palate 2.0 x 10-5
12 Breast Diseases 3.1 x 10-5
13 Lip Diseases 3.1 x 10-5
14 Chromosome Deletion 4.7 x 10-5
15 Mouth Abnormalities 5.3 x 10-5
16 Jaw Abnormalities 8.2 x 10-5
17 Maxillofacial Abnormalities 9.1 x 10-5
18 Cell Transformation, Neoplastic 0.00035
19 Stomatognathic System Abnormalities 0.00055
20 Craniofacial Abnormalities 0.00070
21 Genetic Predisposition to Disease 0.0025
22 Musculoskeletal Abnormalities 0.0035
23 Stomach Neoplasms 0.0045
24 Disease Susceptibility 0.0075
25 Jaw Diseases 0.0075
26 Pathologic Processes 0.0081
27 Prostatic Intraepithelial Neoplasia 0.0095
28 Gastrointestinal Neoplasms 0.012
29 Preleukemia 0.012
30 Hyperopia 0.023
31 Chromosome Inversion 0.035
32 Prostatic Neoplasms 0.037
33 Esophageal Neoplasms 0.044
34 Ventricular Remodeling 0.046
35 Digestive System Neoplasms 0.047
36 Neoplasms, Hormone-Dependent 0.047
37 Colonic Polyps 0.049
MGI mammalian phenotype terms (automatically populated)
ectopia (MP:0002185) abnormal parathyroid gland morphology (MP:0000678) abnormal respiratory system morphology (MP:0002132) abnormal embryonic tissue morphology (MP:0002085) perinatal lethality (MP:0002081) abnormal female reproductive system morphology (MP:0001119) abnormal lung morphology (MP:0001175) abnormal trachea morphology (MP:0002282) abnormal esophageal epithelium morphology (MP:0000468) abnormal stomach epithelium morphology (MP:0000471) abnormal ureter morphology (MP:0000534) abnormal thymus morphology (MP:0000703) absent lungs (MP:0001181) abnormal artery morphology (MP:0002191) abnormal aorta morphology (MP:0000272) abnormal ventricular septum morphology (MP:0000281) hydronephrosis (MP:0000519) abnormal kidney cortex (MP:0000521) hydroureter (MP:0000536) abnormal cricoid cartilage morphology (MP:0002258) abnormal thyroid cartilage morphology (MP:0002260) abnormal left major bronchus morphology (MP:0002265) abnormal right major bronchus morphology (MP:0002266) persistent truncus arteriosis (MP:0002633) abnormal renal tubule morphology (MP:0002703) abnormal aortic valve morphology (MP:0002747) abnormal renal glomerulus morphology (MP:0005325) abnormal pulmonary artery morphology (MP:0000484) renal hypoplasia (MP:0003446) absent uterus (MP:0003558) absent oviduct (MP:0003575) absent Mullerian ducts (MP:0006425) absent anal canal (MP:0009054) absent cranial vagina (MP:0009072) premature death (MP:0002083) abnormal testis morphology (MP:0001146) abnormal spermatogenesis (MP:0001156) interdigital webbing (MP:0000571) postnatal growth retardation (MP:0001732) neonatal lethality (MP:0002058) male infertility (MP:0001925) seminiferous tubule degeneration (MP:0001154) oligozoospermia (MP:0002687) abnormal incus morphology (MP:0005106) abnormal hyoid bone morphology (MP:0003056) abnormal alisphenoid bone morphology (MP:0003235) no abnormal phenotype detected (MP:0002169) abnormal urinary system morphology (MP:0000516) abnormal cardiovascular system morphology (MP:0002127) abnormal thyroid gland morphology (MP:0000681) prenatal lethality (MP:0002080) abnormal uterus morphology (MP:0001120) abnormal bronchus morphology (MP:0002264) absent kidney (MP:0000520) abnormal kidney development (MP:0000527) abnormal arytenoid cartilage morphology (MP:0002257) thin myocardial wall (MP:0002652) abnormal skeleton morphology (MP:0005508) abnormal ureteric bud morphology (MP:0006032) absent vas deferens (MP:0003557) absent seminal vesicle (MP:0003642) absent ureter (MP:0003722) rudimentary Wolffian ducts (MP:0009075) rudimentary Mullerian ducts (MP:0009076) abnormal branchial arch artery morphology (MP:0002672) abnormal ascending aorta morphology (MP:0009867) abnormal axial skeleton morphology (MP:0002114) abnormal cervical vertebrae morphology (MP:0003048) abnormal lumbar vertebrae morphology (MP:0003049) abnormal thoracic vertebrae morphology (MP:0003047) right aortic arch (MP:0004158) abnormal squamosal bone morphology (MP:0004423) cervical vertebral fusion (MP:0004620) abnormal Harderian gland morphology (MP:0005248) ectopic thymus (MP:0003007) abnormal stapedial artery morphology (MP:0004665) abnormal spermiogenesis (MP:0001932) narrow eye opening (MP:0005287) teratozoospermia (MP:0005578) vertebral transformation (MP:0003036) abnormal tracheal cartilage morphology (MP:0003120) fusion of vertebral arches (MP:0004613) cervical vertebral transformation (MP:0004615) lumbar vertebral transformation (MP:0004616) thoracic vertebral transformation (MP:0004618) abnormal spermatid morphology (MP:0006380) male germ cell apoptosis (MP:0008280) abnormal vertebrae morphology (MP:0000137) split vertebrae (MP:0004687) abnormal sternum morphology (MP:0000157) abnormal cartilage morphology (MP:0000163) abnormal vagina morphology (MP:0001139) pulmonary hypoplasia (MP:0001178) abnormal xiphoid process (MP:0000159) abnormal hypoglossal nerve morphology (MP:0001076) abnormal basioccipital bone morphology (MP:0000079) abnormal vitreous body (MP:0002699) abnormal stapes morphology (MP:0005107) abnormal tracheal-esophageal septation (MP:0003117) abnormal inferior vena cava morphology (MP:0006063) abnormal heart septum morphology (MP:0006113) herniated diaphragm (MP:0003924) abnormal vertebral arch morphology (MP:0004599) absent stapedial artery (MP:0004666) abnormal gonial bone morphology (MP:0008380) abnormal sublingual duct morphology (MP:0009527) increased hepatocyte proliferation (MP:0003893)