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.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Cipriani V,Silva RS,Arno G,Pontikos N,Kalhoro A,Valeina S,Inashkina I,Audere M,Rutka K,Puech B,Michaelides M,van Heyningen V,Lace B,Webster AR,Moore ATdoi
10.1038/s41598-017-06387-6subject
Has Abstractpub_date
2017-08-08 00:00:00pages
7512issue
1issn
2045-2322pii
10.1038/s41598-017-06387-6journal_volume
7pub_type
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