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.[1]
The order of the genes in the beta-globin cluster is 5' - epsilon – gamma-G – gamma-A – delta – beta - 3'.
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. If the genes are rearranged, the gene products are expressed at improper stages of development.
See also
References
Further reading
- Frischknecht H, Dutly F (March 2007). "A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia". Haematologica 92 (3): 423–4. doi:10.3324/haematol.10785. PMID 17339197.
- Giardina B, Messana I, Scatena R, Castagnola M (1995). "The multiple functions of hemoglobin". Crit. Rev. Biochem. Mol. Biol. 30 (3): 165–96. doi:10.3109/10409239509085142. PMID 7555018.
- Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (1 April 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood 73 (5): 1081–104. PMID 2649166. http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=2649166.
- Salzano AM, Carbone V, Pagano L, Buffardi S, De RC, Pucci P (February 2002). "Hb Vila Real [beta36(C2)Pro-->His] in Italy: characterization of the amino acid substitution and the DNA mutation". Hemoglobin 26 (1): 21–31. doi:10.1081/HEM-120002937. PMID 11939509.
|
|
|
| Globins |
|
|
|
Subunits
|
|
|
|
|
|
|
|
Compounds
|
|
|
|
Other human
|
|
|
|
Nonhuman
|
|
|
|
|
Other
|
|
|
|
| Other |
|
|
|
see also disorders of globin and globulin proteins
|
|
cell/phys (coag, heme, immu, gran), csfs
|
rbmg/mogr/tumr/hist, sysi/epon, btst
|
drug (B1/2/3+5+6), btst, trns
|
|
|
|