A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

C F Inglehearn, R Bashir, Douglas H. Lester, M Jay, A C Bird, S S Bhattacharya

    Research output: Contribution to journalArticle

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    Abstract

    Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rhodopsin, the rod photoreceptor pigment, is closely linked to locus D3S47 on chromosome 3q. A point mutation changing a conserved proline to histidine in the 23d codon of the gene has been demonstrated in affected members of one ADRP family and in 17 of 148 unrelated ADRP patients. We have sequenced the rhodopsin gene in a C17-linked ADRP family and have identified in the 4th exon and in-frame 3-bp deletion which deletes one of the two isoleucine monomers at codons 255 and 256. This mutation was not found in 30 other unrelated ADRP families. The deletion has arisen in the sequence TCATCATCAT, deleting one of a run of three x 3-bp repeats. The mechanism by which this occurred may be similar to that which creates length variation in so-called mini- and microsatellites. Thus ADRP is an extremely heterogeneous disorder which can result from a range of defects in rhodopsin and which can have a locus or loci elsewhere in the genome.

    Original languageEnglish
    Pages (from-to)26-30
    Number of pages5
    JournalAmerican Journal of Human Genetics
    Volume48
    Issue number1
    Publication statusPublished - Jan 1991

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    Retinitis Pigmentosa
    Rhodopsin
    Genes
    Genetic Recombination
    Codon
    Retinal Rod Photoreceptor Cells
    Minisatellite Repeats
    Genetic Heterogeneity
    Isoleucine
    Pedigree
    Point Mutation
    Histidine
    Proline
    Microsatellite Repeats
    Exons
    Chromosomes
    Genome
    Mutation

    Cite this

    Inglehearn, C. F., Bashir, R., Lester, D. H., Jay, M., Bird, A. C., & Bhattacharya, S. S. (1991). A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. American Journal of Human Genetics, 48(1), 26-30.
    Inglehearn, C F ; Bashir, R ; Lester, Douglas H. ; Jay, M ; Bird, A C ; Bhattacharya, S S. / A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. In: American Journal of Human Genetics. 1991 ; Vol. 48, No. 1. pp. 26-30.
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    abstract = "Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rhodopsin, the rod photoreceptor pigment, is closely linked to locus D3S47 on chromosome 3q. A point mutation changing a conserved proline to histidine in the 23d codon of the gene has been demonstrated in affected members of one ADRP family and in 17 of 148 unrelated ADRP patients. We have sequenced the rhodopsin gene in a C17-linked ADRP family and have identified in the 4th exon and in-frame 3-bp deletion which deletes one of the two isoleucine monomers at codons 255 and 256. This mutation was not found in 30 other unrelated ADRP families. The deletion has arisen in the sequence TCATCATCAT, deleting one of a run of three x 3-bp repeats. The mechanism by which this occurred may be similar to that which creates length variation in so-called mini- and microsatellites. Thus ADRP is an extremely heterogeneous disorder which can result from a range of defects in rhodopsin and which can have a locus or loci elsewhere in the genome.",
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    Inglehearn, CF, Bashir, R, Lester, DH, Jay, M, Bird, AC & Bhattacharya, SS 1991, 'A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa', American Journal of Human Genetics, vol. 48, no. 1, pp. 26-30.

    A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. / Inglehearn, C F; Bashir, R; Lester, Douglas H.; Jay, M; Bird, A C; Bhattacharya, S S.

    In: American Journal of Human Genetics, Vol. 48, No. 1, 01.1991, p. 26-30.

    Research output: Contribution to journalArticle

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    N2 - Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rhodopsin, the rod photoreceptor pigment, is closely linked to locus D3S47 on chromosome 3q. A point mutation changing a conserved proline to histidine in the 23d codon of the gene has been demonstrated in affected members of one ADRP family and in 17 of 148 unrelated ADRP patients. We have sequenced the rhodopsin gene in a C17-linked ADRP family and have identified in the 4th exon and in-frame 3-bp deletion which deletes one of the two isoleucine monomers at codons 255 and 256. This mutation was not found in 30 other unrelated ADRP families. The deletion has arisen in the sequence TCATCATCAT, deleting one of a run of three x 3-bp repeats. The mechanism by which this occurred may be similar to that which creates length variation in so-called mini- and microsatellites. Thus ADRP is an extremely heterogeneous disorder which can result from a range of defects in rhodopsin and which can have a locus or loci elsewhere in the genome.

    AB - Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rhodopsin, the rod photoreceptor pigment, is closely linked to locus D3S47 on chromosome 3q. A point mutation changing a conserved proline to histidine in the 23d codon of the gene has been demonstrated in affected members of one ADRP family and in 17 of 148 unrelated ADRP patients. We have sequenced the rhodopsin gene in a C17-linked ADRP family and have identified in the 4th exon and in-frame 3-bp deletion which deletes one of the two isoleucine monomers at codons 255 and 256. This mutation was not found in 30 other unrelated ADRP families. The deletion has arisen in the sequence TCATCATCAT, deleting one of a run of three x 3-bp repeats. The mechanism by which this occurred may be similar to that which creates length variation in so-called mini- and microsatellites. Thus ADRP is an extremely heterogeneous disorder which can result from a range of defects in rhodopsin and which can have a locus or loci elsewhere in the genome.

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    Inglehearn CF, Bashir R, Lester DH, Jay M, Bird AC, Bhattacharya SS. A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. American Journal of Human Genetics. 1991 Jan;48(1):26-30.