Literature DB >> 8666378

Gene conversion between red and defective green opsin gene in blue cone monochromacy.

E Reyniers1, M N Van Thienen, F Meire, K De Boulle, K Devries, P Kestelijn, P J Willems.   

Abstract

Blue cone monochromacy is an X-linked condition in which the function of both the red pigment gene (RCP) and the green pigment gene (GCP) is impaired. Blue cone monochromacy can be due to a red/green gene array rearrangement existing of a single red/green hybrid gene and an inactivating C203R point mutation in GCP. We describe here a family with blue cone monochromacy due to the presence of the C203R mutation in both RCP and GCP. The flanking sequences of the C203R mutation in exon 4 of RCP were characteristic for GCP, indicating that this mutation was transferred from GCP into RCP by gene conversion.

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Year:  1995        PMID： 8666378     DOI： 10.1006/geno.1995.9998

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  20 in total

1.  High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.

Authors:  S A Yatsenko; H A Bakos; K Vitullo; M Kedrov; A Kishore; B J Jennings; U Surti; M A Wood-Trageser; S Cercone; A N Yatsenko; A Rajkovic; A Iannaccone
Journal:  Clin Genet       Date:  2015-07-28       Impact factor: 4.438

2.  Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Authors:  E Hahnen; J Schönling; S Rudnik-Schöneborn; K Zerres; B Wirth
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

3.  Origins and antiquity of X-linked triallelic color vision systems in New World monkeys.

Authors:  S Boissinot; Y Tan; S K Shyue; H Schneider; I Sampaio; K Neiswanger; D Hewett-Emmett; W H Li
Journal:  Proc Natl Acad Sci U S A       Date:  1998-11-10       Impact factor: 11.205

Review 4.  Advances in understanding the molecular basis of the first steps in color vision.

Authors:  Lukas Hofmann; Krzysztof Palczewski
Journal:  Prog Retin Eye Res       Date:  2015-07-15       Impact factor: 21.198

5.  X-linked cone dystrophy caused by mutation of the red and green cone opsins.

Authors:  Jessica C Gardner; Tom R Webb; Naheed Kanuga; Anthony G Robson; Graham E Holder; Andrew Stockman; Caterina Ripamonti; Neil D Ebenezer; Olufunmilola Ogun; Sophie Devery; Genevieve A Wright; Eamonn R Maher; Michael E Cheetham; Anthony T Moore; Michel Michaelides; Alison J Hardcastle
Journal:  Am J Hum Genet       Date:  2010-06-24       Impact factor: 11.025

6.  A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.

Authors:  Ramona Pop; Michael V Zaragoza; Mara Gaudette; Ulrike Dohrmann; Gerd Scherer
Journal:  Hum Genet       Date:  2005-04-02       Impact factor: 4.132

7.  Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.

Authors:  Ulrich Kellner; Bernd Wissinger; Sabine Tippmann; Susanne Kohl; Hannelore Kraus; Michael H Foerster
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-09       Impact factor: 3.117

Review 8.  The cone dysfunction syndromes.

Authors:  M Michaelides; D M Hunt; A T Moore
Journal:  Br J Ophthalmol       Date:  2004-02       Impact factor: 4.638

9.  The opsin repertoire of Jenynsia onca: a new perspective on gene duplication and divergence in livebearers.

Authors:  Diana J Windsor; Gregory L Owens
Journal:  BMC Res Notes       Date:  2009-08-05

10.  Sexy gene conversions: locating gene conversions on the X-chromosome.

Authors:  Mark J Lawson; Liqing Zhang
Journal:  Nucleic Acids Res       Date:  2009-05-31       Impact factor: 16.971
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