Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26

Several cytogenetic alterations affect the distal part of the long arm of human chromosome 15, including recurrent rearrangements between 12p13 and 15q25, which cause congenital Fibrosarcoma [CFS). We present here the construction of a BAC/PAC contig map that spans 2 Mb from the neurotrophin-3 recep...

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Autores: Pujana Genestar, M. Ángel, Nadal, Marga, Gratacòs, Mònica, Peral, Belén, Csiszar, Katalin, González Sarmiento, Rogelio, Sumoy, Lauro, Estivill, Xavier, 1955-
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2001
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/126388
Acceso en línea:https://hdl.handle.net/2445/126388
Access Level:acceso abierto
Palabra clave:Cromosoma 15 humà
Human chromosome 15
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spelling Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26Pujana Genestar, M. ÁngelNadal, MargaGratacòs, MònicaPeral, BelénCsiszar, KatalinGonzález Sarmiento, RogelioSumoy, LauroEstivill, Xavier, 1955-Cromosoma 15 humàHuman chromosome 15Several cytogenetic alterations affect the distal part of the long arm of human chromosome 15, including recurrent rearrangements between 12p13 and 15q25, which cause congenital Fibrosarcoma [CFS). We present here the construction of a BAC/PAC contig map that spans 2 Mb from the neurotrophin-3 receptor (NTRK3] gene region on 15q25.3 to the proximal end of the Bloom's syndrome region on 15q26.1, and the identification of a set of new chromosome 15 duplicons. The contig reveals the existence of several regions of sequence similarity with other chromosomes [6q, 7p, and 12p) and with other 15q cytogenetic bands (15q11-q13 and 15q24). One region of similarity maps on 15q11-q13, close to the Prader-Willi/Angelman syndromes (PWS/AS) imprinting center. The 12p similar sequence maps on 12p13, at a distance to the ets variant 6 [ETV6) gene that is equivalent on 15q26.1 to the distance to the NTRK3 gene. These two genes are the targets of the CFS recurrent translocations, suggesting that misalignments between these two chromosomes regions could facilitate recombination. The most striking similarity identified is based on a low copy repeat sequence, mainly present on human chromosome 15 (LCR15), which could be considered a newly recognized duplicon. At least 10 copies of this duplicon are present on chromosome 15, mainly on 15q24 and 15q26. One copy is located close to a HERC2 sequence on the distal end of the PWS/AS region, three around the lysyl oxidase like [LOXl) gene on 15q24, and three on 15q26, one of which close to the IQ motif containing GTPase-activating protein I (IQGAPI) gene on 35q26.1. These LCR15 span between 13 and 22 kb and contain high identities with the golgin-like protein (GIP) and the SH3 domain-containing protein [SH3P18) gene sequences and have the characteristics of duplicons. Because duplicons flank chromosome regions that are rearranged in human genomic disorders, the LCR15 described here could represent new elements of rearrangements affecting different regions of human chromosome 15q.Cold Spring Harbor Laboratoy Press2001info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/126388Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1101/gr.155601Genome Research, 2001, vol. 11, num. 1, p. 98-111https://doi.org/10.1101/gr.155601cc by-nc (c) Pujana Genestar et al., 2001http://creativecommons.org/licenses/by-nc/3.0/es/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1263882026-05-27T06:46:51Z
dc.title.none.fl_str_mv Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
title Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
spellingShingle Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
Pujana Genestar, M. Ángel
Cromosoma 15 humà
Human chromosome 15
title_short Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
title_full Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
title_fullStr Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
title_full_unstemmed Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
title_sort Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
dc.creator.none.fl_str_mv Pujana Genestar, M. Ángel
Nadal, Marga
Gratacòs, Mònica
Peral, Belén
Csiszar, Katalin
González Sarmiento, Rogelio
Sumoy, Lauro
Estivill, Xavier, 1955-
author Pujana Genestar, M. Ángel
author_facet Pujana Genestar, M. Ángel
Nadal, Marga
Gratacòs, Mònica
Peral, Belén
Csiszar, Katalin
González Sarmiento, Rogelio
Sumoy, Lauro
Estivill, Xavier, 1955-
author_role author
author2 Nadal, Marga
Gratacòs, Mònica
Peral, Belén
Csiszar, Katalin
González Sarmiento, Rogelio
Sumoy, Lauro
Estivill, Xavier, 1955-
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Cromosoma 15 humà
Human chromosome 15
topic Cromosoma 15 humà
Human chromosome 15
description Several cytogenetic alterations affect the distal part of the long arm of human chromosome 15, including recurrent rearrangements between 12p13 and 15q25, which cause congenital Fibrosarcoma [CFS). We present here the construction of a BAC/PAC contig map that spans 2 Mb from the neurotrophin-3 receptor (NTRK3] gene region on 15q25.3 to the proximal end of the Bloom's syndrome region on 15q26.1, and the identification of a set of new chromosome 15 duplicons. The contig reveals the existence of several regions of sequence similarity with other chromosomes [6q, 7p, and 12p) and with other 15q cytogenetic bands (15q11-q13 and 15q24). One region of similarity maps on 15q11-q13, close to the Prader-Willi/Angelman syndromes (PWS/AS) imprinting center. The 12p similar sequence maps on 12p13, at a distance to the ets variant 6 [ETV6) gene that is equivalent on 15q26.1 to the distance to the NTRK3 gene. These two genes are the targets of the CFS recurrent translocations, suggesting that misalignments between these two chromosomes regions could facilitate recombination. The most striking similarity identified is based on a low copy repeat sequence, mainly present on human chromosome 15 (LCR15), which could be considered a newly recognized duplicon. At least 10 copies of this duplicon are present on chromosome 15, mainly on 15q24 and 15q26. One copy is located close to a HERC2 sequence on the distal end of the PWS/AS region, three around the lysyl oxidase like [LOXl) gene on 15q24, and three on 15q26, one of which close to the IQ motif containing GTPase-activating protein I (IQGAPI) gene on 35q26.1. These LCR15 span between 13 and 22 kb and contain high identities with the golgin-like protein (GIP) and the SH3 domain-containing protein [SH3P18) gene sequences and have the characteristics of duplicons. Because duplicons flank chromosome regions that are rearranged in human genomic disorders, the LCR15 described here could represent new elements of rearrangements affecting different regions of human chromosome 15q.
publishDate 2001
dc.date.none.fl_str_mv 2001
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/126388
url https://hdl.handle.net/2445/126388
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1101/gr.155601
Genome Research, 2001, vol. 11, num. 1, p. 98-111
https://doi.org/10.1101/gr.155601
dc.rights.none.fl_str_mv cc by-nc (c) Pujana Genestar et al., 2001
http://creativecommons.org/licenses/by-nc/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by-nc (c) Pujana Genestar et al., 2001
http://creativecommons.org/licenses/by-nc/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Cold Spring Harbor Laboratoy Press
publisher.none.fl_str_mv Cold Spring Harbor Laboratoy Press
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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