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' - epsilon – gamma-G – gamma-A – delta – beta - 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