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Validated All-in-One™ qPCR Primer for NSD1(NM_022455.4) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11.
Gene References into function
- The genomic structure of NSD1 consists of at least 23 exons, the cDNA is 8552 bp long, contains at least six functional domains (SET, PWWP-I, PWWP-II, PHD-I, PHD-II, and PHD-III) and ten putative nuclear localization signals.
- Haploinsufficiency of NSD1 causes Sotos syndrome
- NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
- A novel 1 base pair mutation in the NSD1 gene is the cause of familial Sotos syndrome in a Sotos syndrome family.
- In 26 patients with Soto's syndrome 18 of the 20 microdeletions occurred prezygotically in the paternally derived chromosome 5, whereas those in the maternally derived chromosome were found in only two cases
- In Sotos and Weaver syndromes mental retardation was consistently more severe in patients with NSD1 deletions.
- fused to NUP98 and frequently transcribed in childhool AML
- genetic susceptibility in Beckwith-Wiedemann syndrome; NSD1 could be involved in imprinting of the chromosome 11p15 region
- NSD1(+/-) patients show endocrine and paracrine changes in the IGF system
- Mutation or microdeletion of NSD1 is diagnostic of Sotos syndrome.
- Haploinsufficiency of NSD1 is the major cause of Sotos syndrome, and NSD1 plays a role in growth and brain development in humans.
- androgen signaling pathway might cross talk with apoptosis signaling pathway through the interaction between ARA267-alpha and DR6
- Deletion of Low-copy repeats that are centromeric and telomeric to NSD1 is associated with Sotos syndrome
- analysis of 266 Sotos syndrome patients with NSD1 aberrations
- REVIEW: mutational analysis in Sotos syndrome
- NSD1 mutation patients showed less severe behavior problems and an easier temperament than NSD1 non-mutation patients, and ADHD was not a consistent finding in these patients.
- The SET domain of NSD1 is involved in NIH3T3 cell growth by modulating serum dependence.
- investigated the NSD1 cDNA sequence in genetically confirmed Sos patients harbouring truncating and missense mutations
- confirms the heterogeneity of NSD1 alterations in Sotos syndrome and therefore the need to complete sequencing analysis by screening for partial deletions and duplications to ensure an accurate molecular diagnosis
- study shows that NUP98-NSD1 induces acute myeloid leukemia in vivo, sustains self-renewal of myeloid stem cells in vitro, and enforces expression of the HoxA7, HoxA9, HoxA10 and Meis1 proto-oncogenes
- Screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.