Loss of Major DNase I Hypersensitive Sites in Duplicatedglobin Gene Cluster Incompletely Silences HBB Gene Expression
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F16%3A00472091" target="_blank" >RIV/68378050:_____/16:00472091 - isvavai.cz</a>
Alternative codes found
RIV/61989592:15110/16:33162128 RIV/00216224:14110/16:00124600
Result on the web
<a href="http://dx.doi.org/10.1002/humu.23061" target="_blank" >http://dx.doi.org/10.1002/humu.23061</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/humu.23061" target="_blank" >10.1002/humu.23061</a>
Alternative languages
Result language
angličtina
Original language name
Loss of Major DNase I Hypersensitive Sites in Duplicatedglobin Gene Cluster Incompletely Silences HBB Gene Expression
Original language description
We report an infant with sickle cell disease phenotype by biochemical analysis whoseglobin gene (HBB) sequencing showed sickle cell mutation (HBBS) heterozygosity. The proband has a unique head-to-tail duplication of theglobin gene cluster having wild-type (HBBA) and HBBS alleles inherited from her father; constituting her HBBS/HBBS-HBBA genotype. Further analyses revealed that proband's duplicatedglobin gene cluster (approximate to 650kb) encompassing HBBA does not include the immediate upstream locus control region (LCR) or 3 DNase I hypersensitivity (HS) element. The LCR interacts withglobin gene cluster involving long range DNA interactions mediated by various transcription factors to drive the regulation of globin genes expression. However, a low level of HBBA transcript was clearly detected by digital PCR. In this patient, the observed transcription from the duplicated, distally displaced HBBA cluster demonstrates that the loss of LCR and flanking 3HS sites do not lead to complete silencing of HBB transcription.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/LH15223" target="_blank" >LH15223: Molecular pathophysiology of erythroid disorders</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Human Mutation
ISSN
1059-7794
e-ISSN
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Volume of the periodical
37
Issue of the periodical within the volume
11
Country of publishing house
US - UNITED STATES
Number of pages
4
Pages from-to
1153-1156
UT code for WoS article
000385804100005
EID of the result in the Scopus database
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