Please use this identifier to cite or link to this item:
10.1038/s41598-017-06387-6
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Cipriani, Valentina | - |
dc.contributor.author | Silva, Raquel S. | - |
dc.contributor.author | Arno, Gavin | - |
dc.contributor.author | Pontikos, Nikolas | - |
dc.contributor.author | Kalhoro, Ambreen | - |
dc.contributor.author | Valeina, Sandra | - |
dc.contributor.author | Inashkina, Inna | - |
dc.contributor.author | Audere, Mareta | - |
dc.contributor.author | Rutka, Katrina | - |
dc.contributor.author | Puech, Bernard | - |
dc.contributor.author | Michaelides, Michel | - |
dc.contributor.author | Van Heyningen, Veronica | - |
dc.contributor.author | Lace, Baiba | - |
dc.contributor.author | Webster, Andrew R. | - |
dc.contributor.author | Moore, Anthony T. | - |
dc.date.accessioned | 2021-09-14T09:55:01Z | - |
dc.date.available | 2021-09-14T09:55:01Z | - |
dc.date.issued | 2017-12-01 | - |
dc.identifier.citation | Cipriani , V , Silva , R S , Arno , G , Pontikos , N , Kalhoro , A , Valeina , S , Inashkina , I , Audere , M , Rutka , K , Puech , B , Michaelides , M , Van Heyningen , V , Lace , B , Webster , A R & Moore , A T 2017 , ' Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus ' , Scientific Reports , vol. 7 , no. 1 , 7512 . https://doi.org/10.1038/s41598-017-06387-6 | - |
dc.identifier.issn | 2045-2322 | - |
dc.identifier.uri | https://dspace.rsu.lv/jspui/handle/123456789/6339 | - |
dc.description | Publisher Copyright: © 2017 The Author(s). | - |
dc.description.abstract | Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a failure of macular development. The disorder has been linked to two loci, MCDR1 (chromosome 6q16) and MCDR3 (chromosome 5p15-p13). Recently, non-coding variants upstream of PRDM13 (MCDR1) and a duplication including IRX1 (MCDR3) have been identified. However, the underlying disease-causing mechanism remains uncertain. Through a combination of sequencing studies on eighteen NCMD families, we report two novel overlapping duplications at the MCDR3 locus, in a gene desert downstream of IRX1 and upstream of ADAMTS16. One duplication of 43 kb was identified in nine families (with evidence for a shared ancestral haplotype), and another one of 45 kb was found in a single family. Three families carry the previously reported V2 variant (MCDR1), while five remain unsolved. The MCDR3 locus is thus refined to a shared region of 39 kb that contains DNAse hypersensitive sites active at a restricted time window during retinal development. Publicly available data confirmed expression of IRX1 and ADAMTS16 in human fetal retina, with IRX1 preferentially expressed in fetal macula. These findings represent a major advance in our understanding of the molecular genetics of NCMD and provide insights into the genetic pathways involved in human macular development. | en |
dc.format.extent | 9 | - |
dc.format.extent | 1671496 | - |
dc.language.iso | eng | - |
dc.relation.ispartof | Scientific Reports | - |
dc.rights | info:eu-repo/semantics/openAccess | - |
dc.subject | 3.2 Clinical medicine | - |
dc.subject | 1.1. Scientific article indexed in Web of Science and/or Scopus database | - |
dc.subject | General | - |
dc.subject | SDG 3 - Good Health and Well-being | - |
dc.title | Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus | en |
dc.type | /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article | - |
dc.identifier.doi | 10.1038/s41598-017-06387-6 | - |
dc.contributor.institution | Rīga Stradiņš University | - |
dc.identifier.url | http://www.scopus.com/inward/record.url?scp=85027037545&partnerID=8YFLogxK | - |
dc.description.status | Peer reviewed | - |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
Files in This Item:
File | Size | Format | |
---|---|---|---|
Duplication_events_downstream_of_IRX1_cause.pdf | 1.63 MB | Adobe PDF | View/Open![]() |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.