PMID- 38160254
OWN - NLM
STAT- MEDLINE
DCOM- 20240415
LR  - 20240415
IS  - 2666-2477 (Electronic)
IS  - 2666-2477 (Linking)
VI  - 5
IP  - 2
DP  - 2024 Apr 11
TI  - Olfactory receptor genes and chromosome 11 structural aberrations: Players or 
      spectators?
PG  - 100261
LID - S2666-2477(23)00093-3 [pii]
LID - 10.1016/j.xhgg.2023.100261 [doi]
LID - 100261
AB  - The largest multi-gene family in metazoans is the family of olfactory receptor 
      (OR) genes. Human ORs are organized in clusters over most chromosomes and seem to 
      include >0.1% the human genome. Because 369 out of 856 OR genes are mapped on 
      chromosome 11 (HSA11), we sought to determine whether they mediate structural 
      rearrangements involving this chromosome. To this aim, we analyzed 220 specimens 
      collected during diagnostic procedures involving structural rearrangements of 
      chromosome 11. A total of 222 chromosomal abnormalities were included, consisting 
      of inversions, deletions, translocations, duplications, and one insertion, 
      detected by conventional chromosome analysis and/or fluorescence in situ 
      hybridization (FISH) and array comparative genomic hybridization (array-CGH). We 
      verified by bioinformatics and statistical approaches the occurrence of 
      breakpoints in cytobands with or without OR genes. We found that OR genes are not 
      involved in chromosome 11 reciprocal translocations, suggesting that different 
      DNA motifs and mechanisms based on homology or non-homology recombination can 
      cause chromosome 11 structural alterations. We also considered the proximity 
      between the chromosomal territories of chromosome 11 and its partner chromosomes 
      involved in the translocations by using the deposited Hi-C data concerning the 
      possible occurrence of chromosome interactions. Interestingly, most of the 
      breakpoints are located in regions highly involved in chromosome interactions. 
      Further studies should be carried out to confirm the potential role of chromosome 
      territories' proximity in promoting genome structural variation, so fundamental 
      in our understanding of the molecular basis of medical genetics and evolutionary 
      genetics.
CI  - Copyright (c) 2024 The Authors. Published by Elsevier Inc. All rights reserved.
FAU - Redaelli, Serena
AU  - Redaelli S
AD  - School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
FAU - Grati, Francesca Romana
AU  - Grati FR
AD  - R&D, Cytogenetics, Molecular Genetics and Medical Genetics Unit, Toma Advanced 
      Biomedical Assays S.p.A. (ImpactLab), 21052 Busto Arsizio, Italy.
FAU - Tritto, Viviana
AU  - Tritto V
AD  - Department of Medical Biotechnology and Translational Medicine, University of 
      Milan, 20122 Milan, Italy.
FAU - Giannuzzi, Giuliana
AU  - Giannuzzi G
AD  - Department of Biosciences, University of Milan, 20122 Milan, Italy.
FAU - Recalcati, Maria Paola
AU  - Recalcati MP
AD  - IRCCS Istituto Auxologico Italiano, Medical Cytogenetics Laboratory, 20095 Cusano 
      Milanino, Italy.
FAU - Sala, Elena
AU  - Sala E
AD  - UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, 
      Italy.
FAU - Villa, Nicoletta
AU  - Villa N
AD  - UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, 
      Italy.
FAU - Crosti, Francesca
AU  - Crosti F
AD  - UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, 
      Italy.
FAU - Roversi, Gaia
AU  - Roversi G
AD  - School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy; 
      UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, 
      Italy.
FAU - Malvestiti, Francesca
AU  - Malvestiti F
AD  - R&D, Cytogenetics, Molecular Genetics and Medical Genetics Unit, Toma Advanced 
      Biomedical Assays S.p.A. (ImpactLab), 21052 Busto Arsizio, Italy.
FAU - Zanatta, Valentina
AU  - Zanatta V
AD  - R&D, Cytogenetics, Molecular Genetics and Medical Genetics Unit, Toma Advanced 
      Biomedical Assays S.p.A. (ImpactLab), 21052 Busto Arsizio, Italy.
FAU - Repetti, Elena
AU  - Repetti E
AD  - R&D, Cytogenetics, Molecular Genetics and Medical Genetics Unit, Toma Advanced 
      Biomedical Assays S.p.A. (ImpactLab), 21052 Busto Arsizio, Italy.
FAU - Rodeschini, Ornella
AU  - Rodeschini O
AD  - IRCCS Istituto Auxologico Italiano, Medical Cytogenetics Laboratory, 20095 Cusano 
      Milanino, Italy.
FAU - Valtorta, Chiara
AU  - Valtorta C
AD  - IRCCS Istituto Auxologico Italiano, Medical Cytogenetics Laboratory, 20095 Cusano 
      Milanino, Italy.
FAU - Catusi, Ilaria
AU  - Catusi I
AD  - IRCCS Istituto Auxologico Italiano, Medical Cytogenetics Laboratory, 20095 Cusano 
      Milanino, Italy.
FAU - Romitti, Lorenza
AU  - Romitti L
AD  - Pathology and Cytogenetics Laboratory, Clinical Pathology Department, Fondazione 
      IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20162 Milan, Italy.
FAU - Martinoli, Emanuela
AU  - Martinoli E
AD  - Department of Medical Biotechnology and Translational Medicine, University of 
      Milan, 20122 Milan, Italy.
FAU - Conconi, Donatella
AU  - Conconi D
AD  - School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
FAU - Dalpra, Leda
AU  - Dalpra L
AD  - School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy; 
      UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, 
      Italy.
FAU - Lavitrano, Marialuisa
AU  - Lavitrano M
AD  - School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
FAU - Riva, Paola
AU  - Riva P
AD  - Department of Medical Biotechnology and Translational Medicine, University of 
      Milan, 20122 Milan, Italy.
FAU - Bentivegna, Angela
AU  - Bentivegna A
AD  - School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy. 
      Electronic address: angela.bentivegna@unimib.it.
LA  - eng
PT  - Journal Article
DEP - 20231230
PL  - United States
TA  - HGG Adv
JT  - HGG advances
JID - 101772885
RN  - 0 (Receptors, Odorant)
SB  - IM
MH  - Humans
MH  - Comparative Genomic Hybridization
MH  - In Situ Hybridization, Fluorescence
MH  - *Chromosomes, Human, Pair 11
MH  - Chromosome Aberrations
MH  - Translocation, Genetic/genetics
MH  - *Receptors, Odorant/genetics
PMC - PMC10820794
OTO - NOTNLM
OT  - MMBIR
OT  - NAHR
OT  - NHEJ
OT  - chromosomal rearrangements
OT  - chromosomal territories
OT  - chromosome 11
OT  - cytogenetics
OT  - cytogenomics
OT  - non-allelic homologous recombination
OT  - non-homologous end joining
OT  - olfactory receptor genes
OT  - replication-based microhomology-mediated break-induced replication
OT  - structural chromosomal aberrations
OT  - structural variants
COIS- Declaration of interests At the time of data collection, F.R.G. was, together 
      with F.M., V.Z., and E.R., a full-time employee of TOMA Advanced Biomedical 
      Assays S.p.A. (Impact Lab) without ownership shares. F.R.G. is currently a 
      full-time employee of Menarini Silicon Biosystems, Reproductive Precision 
      Medicine Unit.
EDAT- 2024/01/02 11:42
MHDA- 2024/04/15 06:42
PMCR- 2023/12/30
CRDT- 2023/12/31 01:36
PHST- 2023/09/15 00:00 [received]
PHST- 2023/12/28 00:00 [revised]
PHST- 2023/12/28 00:00 [accepted]
PHST- 2024/04/15 06:42 [medline]
PHST- 2024/01/02 11:42 [pubmed]
PHST- 2023/12/31 01:36 [entrez]
PHST- 2023/12/30 00:00 [pmc-release]
AID - S2666-2477(23)00093-3 [pii]
AID - 100261 [pii]
AID - 10.1016/j.xhgg.2023.100261 [doi]
PST - ppublish
SO  - HGG Adv. 2024 Apr 11;5(2):100261. doi: 10.1016/j.xhgg.2023.100261. Epub 2023 Dec 
      30.