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

Please wait, while we are loading the content...

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

Linkage analysis with candidate genes: the Taiwan young-onset hypertension genetic study

Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments

Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)

Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome

Association of ACE I/D polymorphism with cardiovascular risk factors

Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene

Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer

Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels

Fusion of 9 beta-satellite and telomere (TTAGGG)n sequences results in a jumping translocation

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

Mutation analysis in glycogen storage disease type 1 non-a

Anticipation in familial Hodgkin's lymphoma

The identical 5′ splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect

Human Genetics : Volume 107, Issue 2, August 2000

Human Genetics : Volume 107, Issue 1, July 2000

Human Genetics : Volume 106

Human Genetics : Volume 105

Human Genetics : Volume 104

Human Genetics : Volume 103

Human Genetics : Volume 102

Human Genetics : Volume 101

Human Genetics : Volume 100

Human Genetics : Volume 99

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

Content Provider	Springer Nature Link
Author	Gerber, Sylvie Rozet, Jean Michel Takezawa, Shin Ichiro Coutinho dos Santos, Luisa Lopes, Lucilia Gribouval, Olivier Penet, Clotilde Perrault, Isabelle Ducroq, Dominique Souied, Eric Jeanpierre, Marc Romana, Serge Frézal, Jean Ferraz, Fernando Yu Umeso, Ruth Munnich, Arld Kaplan, Josseline
Copyright Year	2000
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.
Starting Page	276
Ending Page	284
Page Count	9
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	107
Issue Number	3
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2000-08-16
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

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

Lea on the inquisition of spain and herein of spanish and portuguese jews and marranos

Portuguese crypto-Jews: the genetic heritage of a complex history

Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus

Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients

Novel R252P Mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan

AKT3 Gene Transfer Promotes Anabolic Reprogramming and Photoreceptor Neuroprotection in a Pre-clinical Model of Retinitis Pigmentosa

Population genetic studies of retinitis pigmentosa.

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

Similar Documents

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

Lea on the inquisition of spain and herein of spanish and portuguese jews and marranos

Portuguese crypto-Jews: the genetic heritage of a complex history

Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus

Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients

Novel R252P Mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan

AKT3 Gene Transfer Promotes Anabolic Reprogramming and Photoreceptor Neuroprotection in a Pre-clinical Model of Retinitis Pigmentosa

Population genetic studies of retinitis pigmentosa.

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