Recombinational event between Norrie disease and DXS7 loci

ABSTRACT Examination of the bla CTX-M-2 gene in plasmid pMAR-12 by sequencing and PCR analysis revealed that the bla gene and the surrounding DNA, which is closely related (99% homology) to the Kluyvera ascorbata chromosomal DNA that contains the bla KLUA-1 gene, are located in a complex sul1-type integron, termed In35, that includes Orf513. It is possible that bla CTX-M-2 was acquired by plasmid pMAR-12 through an uncharacterized recombinational event in which Orf513 could be involved.

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Correlation of Ophthalmic Examination with Carrier Status in Females Potentially Harboring a Severe Norrie Disease Gene Mutation

Ophthalmology ◽

10.1016/j.ophtha.2007.04.064 ◽

2008 ◽

Vol 115 (4) ◽

pp. 730-733 ◽

Cited By ~ 1

Author(s):

Arif O. Khan ◽

Mohammed A. Aldahmesh ◽

Brian Meyer

Keyword(s):

Gene Mutation ◽

Disease Gene ◽

Carrier Status ◽

Ophthalmic Examination ◽

Norrie Disease

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Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome

Human Genetics ◽

10.1007/bf00284575 ◽

1985 ◽

Vol 71 (3) ◽

pp. 211-214 ◽

Cited By ~ 39

Author(s):

Liesbeth M. Bleeker-Wagemakers ◽

Ursula Friedrich ◽

A. Gal ◽

T. F. Wienker ◽

Mette Warburg ◽

...

Keyword(s):

Dna Sequence ◽

X Chromosome ◽

Close Linkage ◽

Norrie Disease

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The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3

Human Molecular Genetics ◽

10.1093/hmg/1.2.83 ◽

1992 ◽

Vol 1 (2) ◽

pp. 83-89 ◽

Cited By ~ 29

Author(s):

K.B. Sims ◽

R.V. Lebo ◽

G. Benson ◽

C. Shalish ◽

D. Schuback ◽

...

Keyword(s):

Disease Gene ◽

Norrie Disease ◽

Gene Maps

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Two Thai families with Norrie disease (ND): Association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier

American Journal of Medical Genetics ◽

10.1002/1096-8628(20010415)100:1<52::aid-ajmg1214>3.0.co;2-b ◽

2001 ◽

Vol 100 (1) ◽

pp. 52-55 ◽

Cited By ~ 15

Author(s):

Koki Yamada ◽

Pornprot Limprasert ◽

Mansing Ratanasukon ◽

Supaporn Tengtrisorn ◽

Juthamanee Yingchareonpukdee ◽

...

Keyword(s):

Missense Mutations ◽

Norrie Disease

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Retinoschisis and Norrie Disease: A missing link

10.21203/rs.3.rs-322315/v1 ◽

2021 ◽

Author(s):

Rahini Rajendran ◽

Sudha Dhandayuthapani ◽

Subbulakshmi Chidambaram ◽

Hemavathy Nagarajan ◽

Umashankar Vetrivel ◽

...

Keyword(s):

Mass Spectrometry ◽

Functional Relationship ◽

Direct Interaction ◽

Specific Protein ◽

Knock Out ◽

Norrie Disease ◽

Protein Protein Interaction ◽

Protein Interactome ◽

Molecular Relationships

Abstract Objective: Retinoschisis and Norrie disease are X-linked recessive retinal disorders caused by mutations in RS1 and NDP genes respectively. Both are likely to be monogenic and no locus heterogeneity has been reported. However, there are reports showing overlapping features of Norrie disease and retinoschisis in a NDP knock-out mouse model and also the involvement of both the genes in retinoschisis patients. Yet, the exact molecular relationships between the two disorders have still not been understood. The study investigated the association between retinoschisin (RS1) and norrin (NDP) using in vitro and in silico approaches. Specific protein-protein interaction between RS1 and NDP was analyzed in human retina by co-immunoprecipitation assay and MALDI-TOF mass spectrometry. STRING database was used to explore the functional relationship. Result: Co-immunoprecipitation demonstrated lack of a direct interaction between RS1 and NDP and was further substantiated by mass spectrometry. However, STRING revealed a potential indirect functional association between the two proteins. Progressively, our analyses indicate that FZD4 protein interactome via PLIN2 as well as the MAP kinase signaling pathway to be a likely link bridging the functional relationship between retinoschisis and Norrie disease.

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