Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/1708
Título: The Photoreceptor Cell-Specific Nuclear Receptor Gene (PNR ) Accounts for Retinitis Pigmentosa in the Crypto-Jews from Portugal (Marranos), Survivors from the Spanish Inquisition
Autor: Gerber, S
Rozet, JM
Takezawa, S
Coutinho dos Santos, L
Lopes, L
Gribouval, O
Penet, C
Perrault, I
Ducroq, D
Souied, E
Jeanpierre, M
Romana, S
Frézal, J
Ferraz, F
Yu-Umesono, R
Munnich, A
Kaplan, J
Palavras-chave: Retinite Pigmentosa
Judeus
Cromossomos Humanos Par 15
Belmonte - Portugal
HSAC OFT
HDE GEN
Data: 2000
Editora: Springer-Verlag
Citação: Hum Genet. 2000; 107 :276–284
Resumo: 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.
URI: http://hdl.handle.net/10400.17/1708
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