Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye
Publication Date
March 09, 2018
Authors
Jennifer C. Hocking, Jakub K. Famulski, Kevin H. Yoon, Sonya A. Widen, et al
Volume
14
Issue
3
Pages
e1007246
DOI
https://dx.plos.org/10.1371/journal.pgen.1007246
Publisher URL
http://journals.plos.org/plosgenetics/article?id=10.1371%2Fjournal.pgen.1007246
Scopus
85044842774
Mendeley
http://www.mendeley.com/research/morphogenetic-defects-underlie-superior-coloboma-newly-identified-closure-disorder-dorsal-eye
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Mendeley | Further Information

{"title"=>"Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye", "type"=>"journal", "authors"=>[{"first_name"=>"Jennifer C.", "last_name"=>"Hocking", "scopus_author_id"=>"8668931000"}, {"first_name"=>"Jakub K.", "last_name"=>"Famulski", "scopus_author_id"=>"15055802400"}, {"first_name"=>"Kevin H.", "last_name"=>"Yoon", "scopus_author_id"=>"57201444911"}, {"first_name"=>"Sonya A.", "last_name"=>"Widen", "scopus_author_id"=>"56019640300"}, {"first_name"=>"Cassidy S.", "last_name"=>"Bernstein", "scopus_author_id"=>"57201444730"}, {"first_name"=>"Sophie", "last_name"=>"Koch", "scopus_author_id"=>"57200946380"}, {"first_name"=>"Omri", "last_name"=>"Weiss", "scopus_author_id"=>"55319125800"}, {"first_name"=>"Seema", "last_name"=>"Agarwala", "scopus_author_id"=>"9635767200"}, {"first_name"=>"Adi", "last_name"=>"Inbal", "scopus_author_id"=>"7006851087"}, {"first_name"=>"Ordan J.", "last_name"=>"Lehmann", "scopus_author_id"=>"7006270245"}, {"first_name"=>"Andrew J.", "last_name"=>"Waskiewicz", "scopus_author_id"=>"55665408000"}], "year"=>2018, "source"=>"PLoS Genetics", "identifiers"=>{"doi"=>"10.1371/journal.pgen.1007246", "issn"=>"15537404", "sgr"=>"85044842774", "pui"=>"621543446", "scopus"=>"2-s2.0-85044842774", "pmid"=>"29522511", "isbn"=>"1111111111"}, "id"=>"96ca298b-8582-363e-92bc-2d8ca4c6ac11", "abstract"=>"The eye primordium arises as a lateral outgrowth of the forebrain, with a transient fissure on the inferior side of the optic cup providing an entry point for developing blood vessels. Incomplete closure of the inferior ocular fissure results in coloboma, a disease characterized by gaps in the inferior eye and recognized as a significant cause of pediatric blindness. Here, we identify eight patients with defects in tissues of the superior eye, a congenital disor-der that we term superior coloboma. The embryonic origin of superior coloboma could not be explained by conventional models of eye development, leading us to reanalyze morpho-genesis of the dorsal eye. Our studies revealed the presence of the superior ocular sulcus (SOS), a transient division of the dorsal eye conserved across fish, chick, and mouse. Exome sequencing of superior coloboma patients identified rare variants in a Bone Morpho-genetic Protein (Bmp) receptor (BMPR1A) and T-box transcription factor (TBX2). Consis-tent with this, we find sulcus closure defects in zebrafish lacking Bmp signaling or Tbx2b. In addition, loss of dorsal ocular Bmp is rescued by concomitant suppression of the ventral-specific Hedgehog pathway, arguing that sulcus closure is dependent on dorsal-ventral eye patterning cues. The superior ocular sulcus acts as a conduit for blood vessels, with altered sulcus closure resulting in inappropriate connections between the hyaloid and superficial vascular systems. Together, our findings explain the existence of superior coloboma, a con-genital ocular anomaly resulting from aberrant morphogenesis of a developmental structure.", "link"=>"http://www.mendeley.com/research/morphogenetic-defects-underlie-superior-coloboma-newly-identified-closure-disorder-dorsal-eye", "reader_count"=>6, "reader_count_by_academic_status"=>{"Student > Ph. D. Student"=>2, "Student > Master"=>2, "Student > Bachelor"=>1, "Researcher"=>1}, "reader_count_by_user_role"=>{"Student > Ph. D. Student"=>2, "Student > Master"=>2, "Student > Bachelor"=>1, "Researcher"=>1}, "reader_count_by_subject_area"=>{"Biochemistry, Genetics and Molecular Biology"=>5, "Linguistics"=>1}, "reader_count_by_subdiscipline"=>{"Linguistics"=>{"Linguistics"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>5}}, "group_count"=>0}

Scopus | Further Information

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