serval:BIB_8773892CB036
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
10.1038/mp.2016.84
000401702800007
27240531
Loviglio
M.N.
author
Leleu
M.
author
Männik
K.
author
Passeggeri
M.
author
Giannuzzi
G.
author
van der Werf
I.
author
Waszak
S.M.
author
Zazhytska
M.
author
Roberts-Caldeira
I.
author
Gheldof
N.
author
Migliavacca
E.
author
Alfaiz
A.A.
author
Hippolyte
L.
author
Maillard
A.M.
author
2p15 Consortium
contributor
16p11.2 Consortium
contributor
Van Dijck
A.
author
Kooy
R.F.
author
Sanlaville
D.
author
Rosenfeld
J.A.
author
Shaffer
L.G.
author
Andrieux
J.
author
Marshall
C.
author
Scherer
S.W.
author
Shen
Y.
author
Gusella
J.F.
author
Thorsteinsdottir
U.
author
Thorleifsson
G.
author
Dermitzakis
E.T.
author
Deplancke
B.
author
Beckmann
J.S.
author
Rougemont
J.
author
Jacquemont
S.
author
Reymond
A.
author
Loviglio
M.N.
contributor
Männik
K.
contributor
van der Werf
I.
contributor
Giannuzzi
G.
contributor
Zazhytska
M.
contributor
Gheldof
N.
contributor
Migliavacca
E.
contributor
Alfaiz
A.A.
contributor
Roberts-Caldeira
I.
contributor
Hippolyte
L.
contributor
Maillard
A.M.
contributor
Ferrarini
A.
contributor
Butschi
F.N.
contributor
Conrad
B.
contributor
Addor
M.C.
contributor
Belfiore
M.
contributor
Roetzer
K.
contributor
Dijck
A.V.
contributor
Blaumeiser
B.
contributor
Kooy
F.
contributor
Roelens
F.
contributor
Dheedene
A.
contributor
Chiaie
B.D.
contributor
Menten
B.
contributor
Oostra
A.
contributor
Caberg
J.H.
contributor
Carter
M.
contributor
Kellam
B.
contributor
Stavropoulos
D.J.
contributor
Marshall
C.
contributor
Scherer
S.W.
contributor
Weksberg
R.
contributor
Cytrynbaum
C.
contributor
Bassett
A.
contributor
Lowther
C.
contributor
Gillis
J.
contributor
MacKay
S.
contributor
Bache
I.
contributor
Ousager
L.B.
contributor
Smerdel
M.P.
contributor
Graakjaer
J.
contributor
Kjaergaard
S.
contributor
Metspalu
A.
contributor
Mathieu
M.
contributor
Bonneau
D.
contributor
Guichet
A.
contributor
Parent
P.
contributor
Férec
C.
contributor
Gerard
M.
contributor
Plessis
G.
contributor
Lespinasse
J.
contributor
Masurel
A.
contributor
Marle
N.
contributor
Faivre
L.
contributor
Callier
P.
contributor
Layet
V.
contributor
Meur
N.L.
contributor
Le Goff
C.
contributor
Duban-Bedu
B.
contributor
Sukno
S.
contributor
Boute
O.
contributor
Andrieux
J.
contributor
Blanchet
P.
contributor
Geneviève
D.
contributor
Puechberty
J.
contributor
Schneider
A.
contributor
Leheup
B.
contributor
Jonveaux
P.
contributor
Mercier
S.
contributor
David
A.
contributor
Le Caignec
C.
contributor
de Pontual
L.
contributor
Pipiras
E.
contributor
Jacquette
A.
contributor
Keren
B.
contributor
Gilbert-Dussardier
B.
contributor
Bilan
F.
contributor
Goldenberg
A.
contributor
Chambon
P.
contributor
Toutain
A.
contributor
Till
M.
contributor
Sanlaville
D.
contributor
Leube
B.
contributor
Royer-Pokora
B.
contributor
Grabe
H.J.
contributor
Schmidt
C.O.
contributor
Schurmann
C.
contributor
Homuth
G.
contributor
Thorleifsson
G.
contributor
Thorsteinsdottir
U.
contributor
Bernardini
L.
contributor
Novelli
A.
contributor
Micale
L.
contributor
Merla
G.
contributor
Zollino
M.
contributor
Mari
F.
contributor
Rizzo
C.L.
contributor
Renieri
A.
contributor
Silengo
M.
contributor
Vulto-van Silfhout
A.T.
contributor
Schouten
M.
contributor
Pfundt
R.
contributor
de Leeuw
N.
contributor
Vansenne
F.
contributor
Maas
S.M.
contributor
Barge-Schaapveld
D.Q.
contributor
Knegt
A.C.
contributor
Stadheim
B.
contributor
Rodningen
O.
contributor
Houge
G.
contributor
Price
S.
contributor
Hawkes
L.
contributor
Campbell
C.
contributor
Kini
U.
contributor
Vogt
J.
contributor
Walters
R.
contributor
Blakemore
A.
contributor
Gusella
J.F.
contributor
Shen
Y.
contributor
Scott
D.
contributor
Bacino
C.A.
contributor
Tsuchiya
K.
contributor
Ladda
R.
contributor
Sell
S.
contributor
Asamoah
A.
contributor
Hamati
A.I.
contributor
Rosenfeld
J.A.
contributor
Shaffer
L.G.
contributor
Mitchell
E.
contributor
Hodge
J.C.
contributor
Beckmann
J.S.
contributor
Jacquemont
S.
contributor
Reymond
A.
contributor
Reymond
A.
contributor
Ewans
L.J.
contributor
Mowat
D.
contributor
Walker
J.
contributor
Amor
D.J.
contributor
Esch
H.V.
contributor
Leroy
P.
contributor
Caberg
J.H.
contributor
Bamforth
J.S.
contributor
Babu
D.
contributor
Till
M.
contributor
Sanlaville
D.
contributor
Geneviève
D.
contributor
Puechberty
J.
contributor
Isidor
B.
contributor
DiDonato
N.
contributor
Hackmann
K.
contributor
Passeggeri
M.
contributor
Haeringen
A.V.
contributor
Rosenfeld
J.A.
contributor
Shaffer
L.G.
contributor
Smith
R.
contributor
Ellingwood
S.
contributor
Farber
D.M.
contributor
Puri
V.
contributor
Zadeh
N.
contributor
Weaver
D.D.
contributor
Miller
M.
contributor
Wilks
T.
contributor
Jorgez
C.J.
contributor
Lafayette
D.
contributor
Jacquemont
S.
contributor
article
2017
Molecular Psychiatry
1476-5578
1359-4184
journal
22
6
836-849
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts' maps could uncover functionally and clinically related genes.
eng
60_published
true
peer-reviewed
University of Lausanne
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