TSHZ3

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
TSHZ3
Protein TSHZ3 PDB 2dmi.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTSHZ3, TSH3, ZNF537, teashirt zinc finger homeobox 3
External IDsMGI: 2442819 HomoloGene: 10835 GeneCards: TSHZ3
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for TSHZ3
Genomic location for TSHZ3
Band19q12Start31,149,979 bp[1]
End31,349,547 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020856

NM_172298

RefSeq (protein)

NP_065907

NP_758502

Location (UCSC)Chr 19: 31.15 – 31.35 MbChr 7: 36.7 – 36.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Teashirt homolog 3 is a protein that in humans is encoded by the TSHZ3 gene.[5] In mice, it is a necessary part of the neural circuitry that controls breathing. The gene is also a homolog of the Drosophila melanogaster teashirt gene, which encodes a zinc finger transcription factor important for development of the trunk.

Tshz3-knockout mice do not develop the respiratory rhythm generator (RRG) neural circuit, which is a pacemaker that produces an oscillating rhythm in the brainstem and controls autonomous breathing. The RRG neurons are present, but are abnormal. Those mice do not survive because they don't initiate breathing after birth. Tshz3 is being studied for its relationship to infant breathing defects in humans.[6]

TSHZ3 has been identified as a critical region for a syndrome associated with heterozygous deletions at 19q12-q13.11, which includes autism spectrum disorder (ASD) symptoms such autistic traits, speech disturbance and intellectual disability, as well as renal tract abnormalities. Mice with heterozygous Tshz3 deletion (Tshz3lacZ/+) show enrichment of ASD-related gene orthologs in the cerebral cortex, functional alterations of corticostriatal circuitry and ASD-relevant behavioral abnormalities. [7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000121297 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021217 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ "Entrez Gene: TSHZ3 teashirt family zinc finger 3".
  6. ^ Caubit X, Thoby-Brisson M, Voituron N, Filippi P, Bévengut M, Faralli H, Zanella S, Fortin G, Hilaire G, Fasano L (July 2010). "Teashirt 3 regulates development of neurons involved in both respiratory rhythm and airflow control". J. Neurosci. 30 (28): 9465–76. doi:10.1523/JNEUROSCI.1765-10.2010. PMID 20631175. Lay summaryNew Scientist.
  7. ^ Caubit X, Gubellini P, Andrieux J, Roubertoux PL, Metwaly M, Jacq B, Fatmi A, Had-Aissouni L, Kwan KY, Salin P, Carlier M, Liedén A, Rudd E, Shinawi M, Vincent-Delorme C, Cuisset JM, Lemaitre MP, Abderrehamane F, Duban B, Lemaitre JF, Woolf AS, Bockenhauer D, Severac D, Dubois E, Zhu Y, Sestan N, Garratt AN, Kerkerian-Le Goff L, Fasano L (November 2016). "TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons". Nat. Genet. 48 (11): 1359–69. doi:10.1038/ng.3681. PMC 5083212. PMID 27668656. Lay summaryPubMed.

Further reading[edit]