TBX22

Source: Wikipedia, the free encyclopedia.
TBX22
Identifiers
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_001109878
NM_001109879
NM_001303475
NM_016954

NM_001290747
NM_145224
NM_181319

RefSeq (protein)

NP_001103348
NP_001103349
NP_001290404
NP_058650

NP_001277676
NP_660259
NP_851836

Location (UCSC)Chr X: 80.01 – 80.03 MbChr X: 106.71 – 106.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

T-box transcription factor TBX22 is a protein that in humans is encoded by the TBX22 gene.[5]

TBX22 is a member of a phylogenetically conserved family of proteins that share a common DNA-binding domain, the

cleft palate in some populations.[7]

TBX22 is composed of seven exons spanning 8.7 kilobases of genomic DNA in Xq21.1. The TBX22 mRNA is 2099 base pairs long and encodes a 400-amino-acids protein containing a T-domain in its NH2-terminal region which has the unique feature of missing 20 amino-acids relative to the other known T-domains.[8]

Function

T-box genes are members of a family of transcriptional regulators that contain a region encoding a conserved DNA-binding motif of approximately 200 amino acids: the T-domain. These genes are grouped together on the basis of the homology existing between their products and the mouse

Brachyury (or T) protein. In human and mouse, numerous T-domain-containing genes have been identified so far and mapped throughout the genome. The spatio-temporal expression of these genes is strictly regulated during the development of both vertebrates and invertebrates.[8]

Functional studies have demonstrated that several T-box genes are involved in

palindromic sequence recognized by its T-domain. More generally, T-box genes have been shown to be critical during development for proper morphogenesis and organogenesis. Abnormal expression of several T-box genes has been shown to cause developmental anomalies in mouse, Drosophila
or zebrafish.

Clinical significance

TBX22 mutations in two families predicted to have X linked cleft palate and ankyloglossia. Sequence electropherograms from genomic DNA amplified from exon 5 (family K) and exon 4 (family W) are of affected (mutant) males and unaffected (control) females. *Represents the site of the sequence variant.

In humans, two T-box genes are involved in inherited disorders: mutations in TBX5 cause Holt–Oram syndrome, whereas mutations in TBX3 cause ulnar–mammary syndrome.[8]

Mutations in TBX22 cause X-linked cleft palate and ankyloglossia.

palatogenesis, indicating a specific role of TBX22 in both palatal and tongue development. In addition to families with well defined X linked inheritance, TBX22 mutations have been identified in several families where pedigree size and/or family history were too limited to predict mode of inheritance. In these cases, ascertainment was largely based on the presence of ankyloglossia as well as cleft palate.[10]

It has been demonstrated that TBX22 makes a significant contribution to the prevalence of cleft palate at least in the Brazilian and the North American cohorts.[8] To date, 10 different TBX22 mutations have been reported in patients with CP and/or ankyloglossia.[11] These include small deletions/insertions, nonsense, splice site, frameshift and missense alterations.[7]

References

  1. ^ a b c ENSG00000122145 GRCh38: Ensembl release 89: ENSG00000277800, ENSG00000122145 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031241 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: TBX22 T-box 22".
  6. S2CID 28939959
    .
  7. ^ .
  8. ^ .
  9. .
  10. .
  11. ^ Online Mendelian Inheritance in Man (OMIM): T-BOX 22; TBX22 - 300307

Further reading

External links

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