• encodes
  • In our preliminary studies, we have observed that approximately two-thirds of patients with WAGR syndrome have deletion of the gene which encodes brain-derived neurotrophic factor (BDNF), and that BDNF haploinsufficiency is associated with obesity and with parent reports of hyperphagia and impaired nociception, suggesting that BDNF may play an important role in human energy balance as well as pain sensation. (clinicaltrials.gov)
  • Originally described by Andreas Rett in 1966, Rett syndrome (RTT) is a neurodevelopmental disorder predominantly affecting girls 1 - 4 that is caused by a mutation in MECP2 , a gene located on the long arm of the X chromosome (Xq28), which encodes the transcriptional repressor methyl-CpG-binding protein 2. (ajnr.org)
  • The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. (openaire.eu)
  • A possible association with deletion of the gene GPC1, which encodes a glypican 1-a heparan sulfate proteoglycan, has been reported. (wikipedia.org)
  • mutant
  • Thus, in addition to disrupting the coding region in cis , the mutant bw D heterochromatic insertion also inactivates the bw + gene on the opposite chromosome in trans , a phenomena referred to as trans -inactivation or trans -PEV. (genetics.org)
  • The remaining tests were carried out on heterozygous mutant adult mice and males had an increased mean corpuscular haemoglobin concentration. (wikipedia.org)
  • The remaining tests were carried out on heterozygous mutant mice and radiography showed female animals had defects in their transverse processes. (wikipedia.org)
  • The remaining tests were carried out on heterozygous mutant adult mice and a decreased regulatory T cell number was observed in male animals. (wikipedia.org)
  • loops
  • MMR is initiated by recognition of base-base mismatches and/or small insertion/deletion loops by heterodimeric complexes formed by Escherichia coli MutS homologues. (aacrjournals.org)
  • region
  • This also supports the fact that chromothripsis occurs as one catastrophic event in the cells history as once heterozygosity is lost it generally can't be regained and hence the 2 copy heterozygous state occurring in patches throughout the chromothriptic region is hard to explain. (wikipedia.org)
  • locus
  • An intriguing variation on the above-described classic cis -PEV in Drosophila is the dominant PEV of the brown locus, another eye-color gene located in the distal euchromatin of chromosome 2. (genetics.org)
  • GKD results when the glycerol kinase gene present on the locus Xp21 of the X chromosome is either deleted or mutated. (wikipedia.org)
  • The heterozygous condition is therefore lost at that particular locus. (wikipedia.org)
  • copies
  • This suggest that the rearrangements took place at a time that both parental copies of the chromosome were present and hence early on the development of the cancer cell. (wikipedia.org)
  • In females the disorder is expressed only when there are two copies of the affected gene present on each X chromosome but since the glycerol kinase gene is present only on one X chromosome the disorder is not expressed in women. (wikipedia.org)
  • autosomal
  • It is autosomal dominant, meaning that only one affected chromosome is needed for the condition to occur. (wikipedia.org)
  • In 2015, it was found that chromothripsis can also be curative: a woman who had WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome, an extremely rare autosomal dominant combined immunodeficiency disease, found her symptoms disappeared during her 30s after chromothripsis of chromosome 2 deleted the disease allele. (wikipedia.org)
  • deficiency
  • This could happen in the cases of loss of the dominant allele (deletion) or of a deficiency mutation in the dominant allele in one homologue. (wikipedia.org)
  • loss
  • In chromothriptic areas you get alternation of regions which retain heterozygosity-two copy (no loss or gain), with regions that have loss of heterozygosity- one copy (heterozygous deletion). (wikipedia.org)
  • show
  • Using a mouse model of this deletion (named Df1 ) we show that the aortic arch patterning defects that occur in heterozygously deleted mice ( Df1 /+) are associated with a differentiation impairment of vascular smooth muscle in the 4th pharyngeal arch arteries (PAAs) during early embryogenesis. (oup.com)