PMID- 18473240
OWN - NLM
STAT- MEDLINE
DCOM- 20080812
LR  - 20221207
IS  - 1532-432X (Electronic)
IS  - 0363-0269 (Linking)
VI  - 32
IP  - 3
DP  - 2008
TI  - A +8 (-->CT) mutation within the 5' untranslated region of beta-globin 
      down-regulates the mRNA transcription.
PG  - 247-53
LID - 10.1080/03630260701798375 [doi]
AB  - The 5' untranslated region (5'UTR) of beta-globin has been well characterized and 
      is often used as a model for eukaryotic transcription/translation, but there are 
      still questions regarding the mechanism of translational control. Mutations 
      affecting the Cap site at + 1 and at positions +10, +22, +33 and +40-43 have been 
      described, and it is thought that the initiator element required for 
      transcription stretches from -2 to +7 relative to the Cap site with a downstream 
      element situated from +10 to +15. The influence on initiation or translation of 
      sequences between +7 and +10 is unknown. We report here a family with 
      beta-thalassemia (beta-thal) who have a + 8 (CT) mutation. Molecular studies 
      indicate that this mutation leads to a reduction in mRNA levels and we discuss 
      the implications of a CT change at this position on the transcription/translation 
      process.
FAU - Van de Water, Neil
AU  - Van de Water N
AD  - Diagnostic Genetics Department, LabPlus, Auckland Hospital, Auckland, New 
      Zealand.
FAU - Tan, Tina
AU  - Tan T
FAU - Chan, George
AU  - Chan G
FAU - Cole, Nyree
AU  - Cole N
FAU - Browett, Peter
AU  - Browett P
LA  - eng
PT  - Journal Article
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (5' Untranslated Regions)
RN  - 9004-22-2 (Globins)
SB  - IM
MH  - 5' Untranslated Regions/*genetics/metabolism
MH  - Asian People
MH  - Globins/biosynthesis/*genetics
MH  - Humans
MH  - *Mutation
MH  - Transcription, Genetic/*genetics
MH  - beta-Thalassemia/*genetics/metabolism
EDAT- 2008/05/14 09:00
MHDA- 2008/08/13 09:00
CRDT- 2008/05/14 09:00
PHST- 2008/05/14 09:00 [pubmed]
PHST- 2008/08/13 09:00 [medline]
PHST- 2008/05/14 09:00 [entrez]
AID - 793097630 [pii]
AID - 10.1080/03630260701798375 [doi]
PST - ppublish
SO  - Hemoglobin. 2008;32(3):247-53. doi: 10.1080/03630260701798375.