• genetic
  • Behavioral deficits in an Angelman syndrome model: Effects of genetic background and age. (angelman.org)
  • Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6. (wikipedia.org)
  • Genetic testing methods such as fluorescence in situ hybridization (FISH) and chromosomal microarray are available for diagnosing Dup15q syndrome and similar genetic disorders. (wikipedia.org)
  • A study at the University of California, Los Angeles (UCLA) of 13 children with Dup15q syndrome and 13 children with nonsyndromic ASD (i.e., autism not caused by a known genetic disorder) found that, compared to children with nonsyndromic autism, children with Dup15q had significantly lower autism severity as measured by the Autism Diagnostic Observation Schedule (ADOS) (all children in the study met diagnostic criteria for ASD). (wikipedia.org)
  • This group of researchers found that beta activity in children with Dup15q syndrome is significantly greater than that observed in (1) healthy, typically developing children of the same age and (2) children of the same age and IQ with autism not caused by a known genetic disorder (i.e., nonsyndromic ASD). (wikipedia.org)
  • Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. (wikipedia.org)
  • humans
  • A pattern is observed in GABRB3 gene replication, in humans the maternal allele is replicated later than the paternal allele. (wikipedia.org)
  • In humans, the beta-3 subunit, as well as the subunits of its two neighbouring genes (GABRG3 and GABRA5), are bi-allelically expressed within the cerebral cortex, indicating that the gene is not subjected to imprinting within those cells. (wikipedia.org)
  • Due to the location of GABRB3 in the 15q11-13 imprinting region found in humans, this gene is subject to imprinting depending on the location and the cells developmental state. (wikipedia.org)
  • Probable phospholipid-transporting ATPase VA also known as ATPase class V type 10A (ATP10A) or aminophospholipid translocase VA is an enzyme that in humans is encoded by the ATP10A gene. (wikipedia.org)
  • This discovery provided the first evidence in humans that something beyond genes could determine how the genes are expressed. (wikipedia.org)
  • As of 2014, there are about 150 imprinted genes known in the mouse and about half that in humans. (wikipedia.org)
  • The imprinted brain theory is a variant of the conflict theory of imprinting which argues that in diploid organisms, such as humans, the maternal and paternal set of genes may have antagonistic reproductive interests since the mother and father may have antagonistic interests regarding the development of the child. (wikipedia.org)
  • GABRA5
  • It is located in a gene cluster, with two other genes, GABRG3 and GABRA5. (wikipedia.org)
  • GABRA5, GABRB3, and GABRG3 are gamma aminobutyric acid type A (GABAA) receptor subunit genes and are likely important in Dup15q syndrome given the established role of GABA in the etiologies of autism and epilepsy. (wikipedia.org)
  • The EEG signature appears almost identical to beta oscillations induced by benzodiazepine drugs that modulate GABAA receptors, suggesting that the signature is driven by overexpression of duplicated GABAA receptor genes GABRA5, GABRB3, and GABRG3. (wikipedia.org)
  • Expression
  • A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. (wikipedia.org)
  • This latter research led in 1996 to a speculative paper on transgenerational modulation of gene expression. (wikipedia.org)
  • nonsyndromic
  • However, children with Dup15q syndrome had significantly greater motor impairment and impairment of daily living skills than children in the nonsyndromic ASD group. (wikipedia.org)
  • region
  • A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment. (angelman.org)
  • This gene includes 10 exons within its coding region. (wikipedia.org)
  • GABRB3 was the first gene to be mapped to this particular region. (wikipedia.org)
  • This gene is located within an imprinting region that spans the 15q11-13 region. (wikipedia.org)
  • Many important genes in the 15q11.2-13.1 region likely play crucial roles in the etiology of Dup15q syndrome. (wikipedia.org)
  • Whether an individual exhibits PWS or AS depends on if there is a lack of the paternally expressed gene to contribute to the region. (wikipedia.org)
  • human
  • Because GABA is the principal inhibitory neurotransmitter of the human brain, it is likely that duplications of these GABAA receptor genes affect or disrupt inhibitory neural transmission in Dup15q syndrome. (wikipedia.org)
  • Prediction of the coding sequences of unidentified human genes. (wikipedia.org)
  • All the snoRNAs in these clusters are intron encoded and are processed from the tissue-specific non-coding human MEG8 RNA, which lies downstream of the imprinted genes DLK1 and GTL2. (wikipedia.org)
  • The HGNC, in collaboration with snoRNABase and experts in the field, has approved unique names for human genes that encode snoRNAs. (wikipedia.org)
  • brain
  • Isolation and structural characterization of the rat gene encoding the brain specific snRNP-associated polypeptide "N"". Biochemical and Biophysical Research Communications. (wikipedia.org)
  • better source needed] Many imprinted genes are expressed mainly or entirely in the brain suggesting that differences in imprinting have important effects on the brain. (wikipedia.org)
  • loci
  • This was identified by two individuals that exhibited all 4 components of the core WHS phenotype, which allowed scientists to trace the loci of the deleted genes. (wikipedia.org)
  • Heterodisomy (heterozygous) indicates a meiosis I error if the gene loci in question didn't cross over. (wikipedia.org)
  • Isodisomy (homozygous) indicates either a meiosis II (if the gene loci in question didn't cross over) or postzygotic chromosomal duplication. (wikipedia.org)
  • A meiosis II error can result in heterodisomy UPD if the gene loci crossed over in a similar fashion. (wikipedia.org)
  • single gene
  • There is wide evidence that the WHS core phenotype (growth delay, intellectual disability, seizures, and distinctive craniofacial features) is due to haploinsufficiency of several closely linked genes as opposed to a single gene. (wikipedia.org)
  • Dup15q
  • The most brilliant minds in Angelman and Dup15q syndromes collaborated for two days in Chapel Hill, North Carolina last week, sharing unpublished data and knowledge that is pushing the AS community closer toward treatments and a cure for AS. (angelman.org)
  • Dup15q syndrome includes both interstitial duplications and isodicentric duplications (i.e. (wikipedia.org)
  • Two duplication types are commonly described in Dup15q syndrome, interstitial and isodicentric. (wikipedia.org)
  • Patients with Dup15q syndrome feature a distinctive electroencephalography (EEG) signature or biomarker in the form of high amplitude spontaneous beta frequency (12-30 Hz) oscillations. (wikipedia.org)
  • The organization holds biannual family conferences to bring together families, as well as annual science conferences to bring together Dup15q syndrome researchers from around the world. (wikipedia.org)
  • phenotype
  • Data on this disease (gene variants/phenotype) can be found in the public database Decipher (https://decipher.sanger.ac.uk). (semanticscholar.org)
  • However, variation in severity and phenotype of WHS suggests possible roles for genes that lie proximally and distally to the WHSCR. (wikipedia.org)
  • molecular
  • PWS is frequently found to be the reason for secondary obesity due to early onset hyperphagia - the abnormal increase in appetite for consumption of food.There are known three molecular causes of Prader-Willi syndrome development. (wikipedia.org)