A. Molecular pathology

• MAP3K8
  12 November

  Pathology
  melanocytic tumors with MAP3K8 fusions https://www.nature.com/articles/s41379-019-0384-8
  See also
  MAP3Ks

• genetic recombination
  11 November

  WKP
  Genetic recombination (also known as genetic reshuffling) is the exchange of genetic material between different organisms which leads to production of offspring with combinations of traits that differ from those found in either parent.
  In eukaryotes, genetic recombination during meiosis can lead to a novel set of genetic information that can be passed on from the parents to the offspring. Most recombination is naturally (...)

• mutational signatures
  10 November

  WKP
  Examples : ultraviolet mutational signature
  Definition : Mutational signatures are characteristic combinations of mutation types arising from specific mutagenesis processes such as DNA replication infidelity, exogenous and endogenous genotoxins exposures, defective DNA repair pathways and DNA enzymatic editing.
  Deciphering mutational signatures in cancer provides insight into the biological mechanisms involved in carcinogenesis and normal somatic mutagenesis.
  Mutational signatures (...)

• co-amplification
  10 November

  genic co-amplification; gene co-amplification in tumors
  Examples
  MDM2-CDK4 co-amplification in liposarcomas
  TFEB-VEGFA co-amplification in renal cell carcinoma

• PTPRZ1
  8 November

  WKP
  Pathology
  PTPRZ1-ETV1 fusion in gliomas (#31381204#)

• replication origin
  23 September

  WKP
  https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008320
  https://en.wikipedia.org/wiki/Origin_of_replication

• ADRB1
  2 September

  Pathology
  A mutation in ADRB1 leads to natural short sleep trait in humans
  Mice engineered with same mutation have similar short sleep behavior as humans
  Activity of dorsal pons ADRB1+ neurons associates with REM sleep and wakefulness
  Mutation increases the population activity of dorsal pons ADRB1+ neurons
  References
  A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors. 2019 (...)

• RBM10
  26 August

  WKP
  Definition : RNA-binding protein 10 is a protein that in humans is encoded by the RBM10 gene.
  The protein encoded by this gene contains RNA recognition motif found in a variety of RNA binding proteins, including various hnRNP proteins, proteins implicated in regulation of alternative splicing, and protein components of snRNPs.
  In vitro studies showed that the rat homolog bound to RNA homopolymers, with a preference for G and U polyribonucleotides. This gene is part of a gene (...)

• KAT6A
  20 August

  Microphthalmia-associated transcription factor (MiT) family translocation renal cell carcinoma harbors variable gene fusions involving either TFE3 or TFEB genes.
  Multiple 5’ fusion partners for TFE3 have been reported, including ASPSCR1, CLTC, DVL2, LUC7L3, KHSRP, PRCC, PARP14, NONO, SFPQ1, MED15, RBM10, KAT6A and NEAT1. Each of these fusion genes activates TFE3 transcription which can be detected by immunostaining.
  Open references
  NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new (...)

• NEAT1
  20 August

  Microphthalmia-associated transcription factor (MiT) family translocation renal cell carcinoma harbors variable gene fusions involving either TFE3 or TFEB genes.
  Multiple 5’ fusion partners for TFE3 have been reported, including ASPSCR1, CLTC, DVL2, LUC7L3, KHSRP, PRCC, PARP14, NONO, SFPQ1, MED15, RBM10, KAT6A and NEAT1. Each of these fusion genes activates TFE3 transcription which can be detected by immunostaining.
  Open references
  NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new (...)

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