Human Genetics

, Volume 107, Issue 3, pp 276–284

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition

  • Sylvie Gerber
  • Jean-Michel Rozet
  • Shin-Ichiro Takezawa
  • Luisa Coutinho dos Santos
  • Lucilia Lopes
  • Olivier Gribouval
  • Clotilde Penet
  • Isabelle Perrault
  • Dominique Ducroq
  • Eric Souied
  • Marc Jeanpierre
  • Serge Romana
  • Jean Frézal
  • Fernando Ferraz
  • Ruth Yu-Umesono
  • Arnold Munnich
  • Josseline Kaplan
Original Investigation

DOI: 10.1007/s004390000350

Cite this article as:
Gerber, S., Rozet, J., Takezawa, S. et al. Hum Genet (2000) 107: 276. doi:10.1007/s004390000350

Abstract.

The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic study of a highly consanguineous endogamic population of Crypto-Jews of Belmonte affected with autosomal recessive retinitis pigmentosa (RP). A genome-wide search for homozygosity allowed us to localize the disease gene to chromosome 15q22-q24 (Zmax=2.95 at θ=0 at the D15S131 locus). Interestingly, the photoreceptor cell-specific nuclear receptor (PNR) gene, the expression of which is restricted to the outer nuclear layer of retinal photoreceptor cells, was found to map to the YAC contig encompassing the disease locus. A search for mutations allowed us to ascribe the RP of Crypto-Jews of Belmonte to a homozygous missense mutation in the PNR gene. Preliminary haplotype studies support the view that this mutation is relatively ancient but probably occurred after the population settled in Belmonte.

Copyright information

© Springer-Verlag 2000

Authors and Affiliations

  • Sylvie Gerber
    • 1
  • Jean-Michel Rozet
    • 1
  • Shin-Ichiro Takezawa
    • 2
  • Luisa Coutinho dos Santos
    • 3
  • Lucilia Lopes
    • 3
  • Olivier Gribouval
    • 1
  • Clotilde Penet
    • 1
  • Isabelle Perrault
    • 1
  • Dominique Ducroq
    • 1
  • Eric Souied
    • 1
  • Marc Jeanpierre
    • 4
  • Serge Romana
    • 1
  • Jean Frézal
    • 1
  • Fernando Ferraz
    • 5
  • Ruth Yu-Umesono
    • 2
  • Arnold Munnich
    • 1
  • Josseline Kaplan
    • 1
  1. 1.Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital Necker, Paris, France
  2. 2.Graduate School for Biostudies, Kyoto, Japan
  3. 3.Serviço de Oftalmologia, Hospital Dos Capuchos, Lisboa, Portugal
  4. 4.INSERM U129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris, France
  5. 5.Serviço de Genética, Hospital Dona Estefânia, Lisboa, Portugal