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.

Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators? / S. Redaelli, F.R. Grati, V. Tritto, G. Giannuzzi, M.P. Recalcati, E. Sala, N. Villa, F. Crosti, G. Roversi, F. Malvestiti, V. Zanatta, E. Repetti, O. Rodeschini, C. Valtorta, I. Catusi, L. Romitti, E. Martinoli, D. Conconi, L. Dalprà, M. Lavitrano, P. Riva, A. Bentivegna. - In: HGG ADVANCES. - ISSN 2666-2477. - 5:2(2023 Dec 30), pp. 100261.1-100261.8. [10.1016/j.xhgg.2023.100261]

Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?

G. Giannuzzi;E. Martinoli;P. Riva
Penultimo
;
2023

Abstract

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.
MMBIR; NAHR; NHEJ; chromosomal rearrangements; chromosomal territories; chromosome 11; cytogenetics; cytogenomics; non-allelic homologous recombination; non-homologous end joining; olfactory receptor genes; replication-based microhomology-mediated break-induced replication; structural chromosomal aberrations; structural variants
Settore BIO/18 - Genetica
Settore MED/03 - Genetica Medica
30-dic-2023
Article (author)
File in questo prodotto:
File Dimensione Formato  
1-s2.0-S2666247723000933-main.pdf

accesso aperto

Descrizione: Article
Tipologia: Publisher's version/PDF
Dimensione 2.83 MB
Formato Adobe PDF
2.83 MB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/1030272
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact