Human β-globin locus

Human β-globin locus

The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Hemoglobin. This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G , and epsilon globin. Expression of all of these genes is controlled by single locus control region (LCR), and the genes are differentially expressed throughout development.cite journal | author = Levings PP, Bungert J | title = The human beta-globin locus control region | journal = Eur. J. Biochem. | volume = 269 | issue = 6 | pages = 1589–99 | year = 2002 | month = March | pmid = 11895428 | doi = 10.1046/j.1432-1327.2002.02797.x | url = ] The spatial orientation of the genes comprising the human β-globin locus is essential to their proper regulation. If the genes are rearranged, the gene products are expressed at improper stages of development. The arrangement of the genes directly reflects the temporal differentiation of their expression during development, with the early-embryonic stage version of the gene located closest to the LCR. This indicates that the spatial arrangement and order of the genes with respect to the LCR facilitates their differential expression during development. Thus, the clustering of these genes assists in their tightly regulated developmental expression.

The order of the genes in the beta-globin cluster is 5' - epsilongamma-Ggamma-Adeltabeta - 3'.

ee also

* Beta globin gene

References

Further reading

*cite journal | author = Frischknecht H, Dutly F | title = A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia | journal = Haematologica | volume = 92 | issue = 3 | pages = 423–4 | year = 2007 | month = March | pmid = 17339197 | url = | doi = 10.3324/haematol.10785
*cite journal | author = Giardina B, Messana I, Scatena R, Castagnola M | title = The multiple functions of hemoglobin | journal = Crit. Rev. Biochem. Mol. Biol. | volume = 30 | issue = 3 | pages = 165–96 | year = 1995 | pmid = 7555018 | url = | doi = 10.3109/10409239509085142
*cite journal | author = Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ | title = A review of the molecular genetics of the human alpha-globin gene cluster | journal = Blood | volume = 73 | issue = 5 | pages = 1081–104 | year = 1989 | month = April | pmid = 2649166 | url = http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=2649166 | issn =
*cite journal | author = Salzano AM, Carbone V, Pagano L, Buffardi S, De RC, Pucci P | title = Hb Vila Real [beta36(C2)Pro-->His] in Italy: characterization of the amino acid substitution and the DNA mutation | journal = Hemoglobin | volume = 26 | issue = 1 | pages = 21–31 | year = 2002 | month = February | pmid = 11939509 | url = | doi = 10.1081/HEM-120002937


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См. также в других словарях:

  • HBB — Beta globin (HBB, β globin) is a protein that, along with alpha globin (HBA), makes up the most common form of hemoglobin in adult humans.cite web | title = Entrez Gene: HBB hemoglobin, beta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene …   Wikipedia

  • HBE1 — Hemoglobin, epsilon 1, also known as HBE1, is a human gene. PBB Summary section title = summary text = The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha like… …   Wikipedia

  • NFE2 — Nuclear factor (erythroid derived 2), 45kDa Rendering based on PDB 1LVX …   Wikipedia

  • HBD — Hemoglobin, delta PDB rendering based on 1a00 …   Wikipedia

  • HBB (disambiguation) — HBB could refer to: * HBB(Has Bilgi Birikim),a TV channel * Headbangers Ball * Hubberts Bridge railway station, England; National Rail station code HBB. * Human β globin locus …   Wikipedia

  • Mu hemoglobin — hemoglobin, mu Identifiers Symbol HBM Alt. symbols HBAP2 Entrez 3042 …   Wikipedia

  • Gene therapy — using an Adenovirus vector. A new gene is inserted into an adenovirull. If the treatment is successful, the new gene will make a functional protein. Gene therapy is the insertion, alteration, or removal of genes within an individual s cells and… …   Wikipedia

  • NFE2L2 — Nuclear factor (erythroid derived 2) like 2 Identifiers Symbols NFE2L2; NRF2 External IDs …   Wikipedia

  • GATA1 — is an important transcription factor involved in cell growth and cancer. PBB Summary section title = summary text = This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in… …   Wikipedia

  • EKLF — protein Name=Erythroid Krüppel like Factor caption= width= HGNCid=6345 Symbol=EKLF AltSymbols=KLF1 EntrezGene=10661 OMIM=600599 RefSeq=NM 006563 UniProt=Q13351 PDB= ECnumber= Chromosome=19 Arm=p Band=13.13 13.12 LocusSupplementaryData=Erythroid… …   Wikipedia


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