Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3

J Brown, K L Dry, A J Edgar, F E Pryde, L J Hardwick, M A Aldred, D H Lester, S Boyle, J Kaplan, J L Dufier, M F Ho, A M Monaco, M A Musarella, A F Wright

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    Abstract

    The gene responsible for X-linked retinitis pigmentosa (xlRP) in Xp21.1 (RP3) was initially localized by deletion analysis to within a 150- to 170-kb region between the CYBB locus and the proximal deletion junction (BBJPROX) from a patient, BB, who suffered from Duchenne muscular dystrophy (DMD), McLeod syndrome, chronic granulomatous disease (CGD), and xlRP. This gene has recently been isolated and was found to be located outside and 400 kb proximal to the BB deletion. Further analysis of BBJPROX has identified the breakpoint junction sequence, showing that it occurs within an Alu repetitive element on the proximal side but with no significant homology to the distal sequence in dystrophin intron 30. Analysis of an overlapping deletion in patient NF, who suffered from DMD, CGD, and McLeod syndrome, shows that this deletion is within 4 kb but extends centromeric to BBJPROX, consistent with the location of RP3 outside the BB deletion region. A sequence with strong homology to a THE-1 transposon-like element was identified 7-13 kb from the proximal BB and NF breakpoints. These elements have been implicated in several highly unstable genomic regions. A third overlapping deletion, in a patient, SB, who suffered from CGD, McLeod syndrome, and xlRP, has here been shown to extend 380 kb proximal to the NF breakpoint, consistent with the finding that RP3 lies outside the BB deletion. This deletion has now been shown to disrupt the RP3 (RPGR) gene. The reason for the retinitis pigmentosa phenotype in patient BB remains unclear, but the most likely explanations include a long-range chromosomal position effect, a small secondary rearrangement, and the presence of a coincident autosomal form of retinitis pigmentosa.

    Original languageEnglish
    Pages (from-to)200-10
    Number of pages11
    JournalGenomics
    Volume37
    Issue number2
    DOIs
    Publication statusPublished - 15 Oct 1996

    Fingerprint

    Retinitis Pigmentosa
    Chronic Granulomatous Disease
    Duchenne Muscular Dystrophy
    Chromosomal Position Effects
    Alu Elements
    X-Linked Genes
    Dystrophin
    Introns
    Genes
    Phenotype
    Mcleod Type Neuroacanthocytosis

    Cite this

    Brown, J., Dry, K. L., Edgar, A. J., Pryde, F. E., Hardwick, L. J., Aldred, M. A., ... Wright, A. F. (1996). Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3. Genomics, 37(2), 200-10. https://doi.org/10.1006/geno.1996.0543
    Brown, J ; Dry, K L ; Edgar, A J ; Pryde, F E ; Hardwick, L J ; Aldred, M A ; Lester, D H ; Boyle, S ; Kaplan, J ; Dufier, J L ; Ho, M F ; Monaco, A M ; Musarella, M A ; Wright, A F. / Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3. In: Genomics. 1996 ; Vol. 37, No. 2. pp. 200-10.
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    title = "Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3",
    abstract = "The gene responsible for X-linked retinitis pigmentosa (xlRP) in Xp21.1 (RP3) was initially localized by deletion analysis to within a 150- to 170-kb region between the CYBB locus and the proximal deletion junction (BBJPROX) from a patient, BB, who suffered from Duchenne muscular dystrophy (DMD), McLeod syndrome, chronic granulomatous disease (CGD), and xlRP. This gene has recently been isolated and was found to be located outside and 400 kb proximal to the BB deletion. Further analysis of BBJPROX has identified the breakpoint junction sequence, showing that it occurs within an Alu repetitive element on the proximal side but with no significant homology to the distal sequence in dystrophin intron 30. Analysis of an overlapping deletion in patient NF, who suffered from DMD, CGD, and McLeod syndrome, shows that this deletion is within 4 kb but extends centromeric to BBJPROX, consistent with the location of RP3 outside the BB deletion region. A sequence with strong homology to a THE-1 transposon-like element was identified 7-13 kb from the proximal BB and NF breakpoints. These elements have been implicated in several highly unstable genomic regions. A third overlapping deletion, in a patient, SB, who suffered from CGD, McLeod syndrome, and xlRP, has here been shown to extend 380 kb proximal to the NF breakpoint, consistent with the finding that RP3 lies outside the BB deletion. This deletion has now been shown to disrupt the RP3 (RPGR) gene. The reason for the retinitis pigmentosa phenotype in patient BB remains unclear, but the most likely explanations include a long-range chromosomal position effect, a small secondary rearrangement, and the presence of a coincident autosomal form of retinitis pigmentosa.",
    author = "J Brown and Dry, {K L} and Edgar, {A J} and Pryde, {F E} and Hardwick, {L J} and Aldred, {M A} and Lester, {D H} and S Boyle and J Kaplan and Dufier, {J L} and Ho, {M F} and Monaco, {A M} and Musarella, {M A} and Wright, {A F}",
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    Brown, J, Dry, KL, Edgar, AJ, Pryde, FE, Hardwick, LJ, Aldred, MA, Lester, DH, Boyle, S, Kaplan, J, Dufier, JL, Ho, MF, Monaco, AM, Musarella, MA & Wright, AF 1996, 'Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3', Genomics, vol. 37, no. 2, pp. 200-10. https://doi.org/10.1006/geno.1996.0543

    Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3. / Brown, J; Dry, K L; Edgar, A J; Pryde, F E; Hardwick, L J; Aldred, M A; Lester, D H; Boyle, S; Kaplan, J; Dufier, J L; Ho, M F; Monaco, A M; Musarella, M A; Wright, A F.

    In: Genomics, Vol. 37, No. 2, 15.10.1996, p. 200-10.

    Research output: Contribution to journalArticle

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    AU - Dry, K L

    AU - Edgar, A J

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    AU - Hardwick, L J

    AU - Aldred, M A

    AU - Lester, D H

    AU - Boyle, S

    AU - Kaplan, J

    AU - Dufier, J L

    AU - Ho, M F

    AU - Monaco, A M

    AU - Musarella, M A

    AU - Wright, A F

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    Brown J, Dry KL, Edgar AJ, Pryde FE, Hardwick LJ, Aldred MA et al. Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3. Genomics. 1996 Oct 15;37(2):200-10. https://doi.org/10.1006/geno.1996.0543