Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter
PBN-AR
Instytucja
Instytut Matki i Dziecka
Informacje podstawowe
Główny język publikacji
en
Czasopismo
CHROMOSOME RESEARCH
ISSN
0967-3849
EISSN
1573-6849
Wydawca
SPRINGER
DOI
URL
Rok publikacji
2013
Numer zeszytu
8
Strony od-do
781-788
Numer tomu
21
Identyfikator DOI
Liczba arkuszy
0.85
Autorzy
(liczba autorów: 5)
Pozostali autorzy
+ 3
Słowa kluczowe
en
Chromatin looping
Gene regulation
lncRNA
Sex reversal
Streszczenia
Język
en
Treść
Evolutionarily conserved transcription factor SOX9 is essential for the differentiation of chondrocytes and the development of testes. Heterozygous point mutations and genomic deletions involving SOX9 lead to campomelic dysplasia (CD), a skeletal malformation syndrome often associated with sex reversal. Chromosomal rearrangements with breakpoints mapping up to 1.6 Mb up- and downstream to SOX9, and likely disrupting its distant cis-regulatory elements, have been described in patients with milder forms of CD. Based on the location of these aberration breakpoints, four clusters upstream of SOX9 have been defined. Interestingly, we found that each of these intervals overlaps a gene encoding long noncoding RNA (lncRNA), suggesting that lncRNAs may contribute to long-range regulation of SOX9 expression. One of the four upstream regions, RevSex (517–595 kb 5′ to SOX9), is associated with sex reversal, and was suggested to harbor a testis-specific and sex-determining enhancer. Another sex-determining interval was mapped to a gene desert >1.3 Mb downstream of SOX9. We have performed chromosome conformation capture-on-chip (4C) analysis in Sertoli cells and lymphoblasts to verify the proposed long-range interactions of the SOX9 promoter and to identify potential novel regulatory elements that might be responsible for sex reversal in patients with CD. We identified several novel potentially cis-interacting regions both up- and downstream to SOX9, with some of them overlapping lncRNA genes. Our data point to lncRNAs as likely mediators of some of these regulatory interactions.
Cechy publikacji
discipline:Biochemia – dziedzina nauk biologicznych
discipline:Biologia medyczna
discipline:Biochemistry – field of biological sciences
discipline:Medical biology
Original article
Original article presents the results of original research or experiment.
Oryginalny artykuł naukowy
Oryginalny artykuł naukowy przedstawia rezultaty oryginalnych badań naukowych lub eksperymentu.
Inne
System-identifier
PBN-R:454797
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