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TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa

Nature Genetics volume 18, pages 177–179 (1998)Cite this article

Abstract

The RP14 autosomal recessive Retinitis pigmentosa (arRP) locus has been mapped to a 2cM region of chromosome 6p21.3 (refs 1–3). TULP1 (the gene encoding tubby-like protein 1) is a candidate target for the disease mutation because it maps to the RP14 minimum genetic region and because a mutation in the highly homologous mouse tub gene leads to obesity, deafness and early progressive retinal degeneration4–6. Here we report a splice-site mutation (IVS14+1, G→A) that is homozygous in all affected individuals (N = 33) and heterozygous in all obligate carriers (N = 50) from two RP14-1 inked kindreds. The mutation was not observed in 210 unrelated controls. The data indicate that impairment of TULP1 protein function is a rare cause of arRP and that the normal protein plays an essential role in the physiology of the retina.

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Authors and Affiliations

  1. Departments of Genetics & Development, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, New York, 10032, USA

    Poulabi Banerjee & T. Conrad Gilliam

  2. Psychiatry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, New York, 10032, USA

    James A. Knowles, Barbara M. Ross, Graciela K. Penchaszadeh & T. Conrad Gilliam

  3. Columbia Genome Center, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, New York, 10032, USA

    James A. Knowles, Graciela K. Penchaszadeh & T. Conrad Gilliam

  4. Millennium Pharmaceuticals, Cambridge, Massachusetts, 02139, USA

    Patrick W. Kleyn, Steve G. Kovats & John J. Lee

  5. Carrabelle Medical Center, Carrabelle, Florida, 32322, USA

    Charles A. Lewis

  6. Pediatric Clinic, University of Catania, and IBFSNC, CNR, Catania, Italy

    Enrico Parano

  7. Rockefeller University, Laboratory of Statistical Genetics, New York, New York, 10021, USA

    Jürg Ott

  8. Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, 19104, USA

    Samuel G. Jacobson

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  1. Poulabi Banerjee
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  2. Patrick W. Kleyn
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  3. James A. Knowles
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  4. Charles A. Lewis
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  5. Barbara M. Ross
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  6. Enrico Parano
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  7. Steve G. Kovats
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  8. John J. Lee
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  9. Graciela K. Penchaszadeh
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  10. Jürg Ott
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  11. Samuel G. Jacobson
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  12. T. Conrad Gilliam
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Corresponding author

Correspondence to T. Conrad Gilliam.

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Banerjee, P., Kleyn, P., Knowles, J. et al. TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa. Nat Genet 18, 177–179 (1998). https://doi.org/10.1038/ng0298-177

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