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CRX (gene)

From Wikipedia, the free encyclopedia

CRX
Identifiers
AliasesCRX, CORD2, CRD, LCA7, OTX3, cone-rod homeobox
External IDsOMIM: 602225; MGI: 1194883; HomoloGene: 467; GeneCards: CRX; OMA:CRX - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000554

NM_001113330
NM_007770

RefSeq (protein)

NP_000545

NP_001106801
NP_031796

Location (UCSC)Chr 19: 47.82 – 47.84 MbChr 7: 15.6 – 15.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.[5][6][7]

Function

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The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber's congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.[7]

Mammalian CRX encodes a 299 amino acid protein containing a DNA binding homeodomain (HD) near its N-terminus followed by glutamine rich (Gln), and basic amino acid regions, then a C-terminal transactivation domain (AD).[8] While structural biochemistry has demonstrated that the CRX HD adopts a canonical homeodomain protein fold, the AD is predicted to be flexible and disordered. The structural attributes of the CRX AD have yet to be solved.[9]

Evolution

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CRX is a divergent duplicate of OTX produced during the 2 rounds of vertebrate whole genome duplication.[10]

In the eutherian mammals, CRX has again duplicated by tandem gene duplication, with six ancestral duplicates, which are collectively referred to as ETCHbox genes.[11]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000105392Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041578Ensembl, 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. ^ Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, et al. (Nov 1997). "Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor". Cell. 91 (4): 543–53. doi:10.1016/S0092-8674(00)80440-7. hdl:10261/270606. PMID 9390563. S2CID 5755412.
  6. ^ Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC, et al. (Apr 1998). "De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis". Nature Genetics. 18 (4): 311–2. doi:10.1038/ng0498-311. PMID 9537410. S2CID 22131800.
  7. ^ a b "Entrez Gene: CRX cone-rod homeobox".
  8. ^ Tran NM, Zhang A, Zhang X, Huecker JB, Hennig AK, Chen S (Feb 6, 2014). "Mechanistically Distinct Mouse Models for CRX-Associated Retinopathy". PLOS Genet. 10 (2): e1004111. doi:10.1371/journal.pgen.1004111. PMC 3916252. PMID 24516401.
  9. ^ Clanor PB, Buchholz CN, Hayes JE, Friedman MA, White AM, Enke RA, et al. (March 23, 2022). "Structural and functional analysis of the human cone-rod homeobox transcription factor". Proteins. 90 (8): 1584–1593. doi:10.1002/prot.26332. PMC 9271546. PMID 35255174.
  10. ^ Germot A, Lecointre G, Plouhinec JL, Le Mentec C, Girardot F, Mazan S (September 2001). "Structural evolution of Otx genes in craniates". Molecular Biology and Evolution. 18 (9): 1668–78. doi:10.1093/oxfordjournals.molbev.a003955. PMID 11504847.
  11. ^ Maeso I, Dunwell TL, Wyatt CD, Marlétaz F, Vető B, Bernal JA, et al. (June 2016). "Evolutionary origin and functional divergence of totipotent cell homeobox genes in eutherian mammals". BMC Biology. 14 (1): 45. doi:10.1186/s12915-016-0267-0. PMC 4904359. PMID 27296695.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.