Insulin‐dependent Diabetes Mellitus (IDDM): Identifying the Disease‐causing Gene at the IDDM11 Locus

Massimo Zollo, Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy
Paul Dear, MRC Laboratory of Molecular Biology, Cambridge, UK
Flemming Pociot, Steno Diabetes Center, Gentofte, Denmark

Published online: September 2005

DOI: 10.1038/npg.els.0005377

In complex diseases, genome linkage analysis, fine mapping and association studies are used to identify disease-causing genes. With the completion of the human genome sequence and its annotation, positional candidate gene studies have become an attractive method to identify genes involved in complex disorders by screening for selected chromosomal interval regions.

Keywords: diabetes; locus; genes; linkage; insulin-dependent diabetes mellitus

 References
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    Biunno I, Appierto V, Cattaneo M, et al. (1997) Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas. Genomics 46: 284–286.
    Biunno I, Bernard L, Dear P, et al. (2000) SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers. Human Genetics 106: 227–235.
    Cattaneo M, Sorio C, Malferrari G, et al. (2001) Cloning and functional analysis of SEL1L promoter region, a pancreas specific gene. DNA and Cell Biology 20(1): 1–9.
    Cox N, Wapelhurst B, Morrison A, et al. (2001) Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. American Journal of Human Genetics 69: 820–830.
    Donoviel DB, Donoviel MS, Fan E, Hadjantonakis A and Bernstein A (1998) Cloning and characterization of Sel-1l, a murine homolog of the C. elegans sel-1 gene. Mechanisms of Development 78: 203–207.
    Field LL, Tobias R, Thomson G and Plon S (1996) Susceptibility to insulin-dependent diabetes mellitus maps to a locus (IDDM11) on human chromosome 14q24.3–q31. Genomics 33: 1–8.
    Harada Y, Ozaki K, Suzuki M, et al. (1999) Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1. Journal of Human Genetics 44: 330–336.
    Nerup J and Pociot F/ European Consortium for IDDM genome Studies (2001) A genome-wide scan for type 1 diabetes susceptibility genes in Scandinavian families: identification of new loci with evidence of interaction. American Journal of Human Genetics 69: 1301–1313.
    Pociot F, Larsen ZM, Zavattari P, et al. (2001) No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibility. Diabetes/Metabolism Research and Reviews 17: 292–295.
 Further Reading
    Field LL (2002) Genetic linkage and association studies of type 1 diabetes: challenges and rewards. Diabetologia 45: 21–35.
    Jensen J, Pedersen EE, Galante P, et al. (2000) Control of endodermal endocrine development by Hes-1. Nature Genetics 24: 36–44.
    Pociot F and McDermott MF (2002) Genetics of type 1 diabetes mellitus. Genes and Immunity 3: 235–249.
    Risch N, Ghosh S and Todd JA (1993) Statistical evaluation of multiple-locus linkage data in experimental species and its relevance to human studies: application to nonobese diabetic (NOD) mouse and human insulin-dependent diabetes mellitus (IDDM). American Journal of Human Genetics 53: 702–714.
    Tabor HK, Risch NJ and Myers RM (2002) Candidate-gene approaches for studying complex genetic traits: practical considerations. Nature Reviews Genetics 3: 1–7.
    book Wass J and Shalet S (eds.) (2002) Oxford Textbook of Endocrinology and Diabetes Oxford, UK: Oxford University Press.
 Web Links
    ePath HUGO Gene Nomenclature Committee (HGNC) http://www.gene.ucl.ac.uk/nomenclature
    ePath OMIM (Online Mendelian Inheritance in Man) http://www.ncbi.nlm.nih.gov
    ePath Sanger Centre (The MHC haplotype Project) http://www.sanger.ac.uk/HGP/Chr6/MHC/index.shtml
    ePath IDDM2 (insulin-dependent diabetes mellitus 2); LocusID: 3401. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3401
    ePath IDDM11 (insulin-dependent diabetes mellitus 11); LocusID: 3410. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3410
    ePath SEL1L (sel-1 suppressor of lin-12-like (C. elegans)); LocusID: 6400. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6400
    ePath IDDM2 (insulin-dependent diabetes mellitus 2); MIM number: 125852. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?125852
    ePath IDDM11 (insulin-dependent diabetes mellitus 11); MIM number: 601208. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601208
    ePath SEL1L (sel-1 suppressor of lin-12-like(C. elegans)); MIM number: 602329. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?602329

Related Sub-Topics:

Molecular Genetics of Common and Complex Disease | Linkage Analysis | Gene Mapping by Disease Association
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Article Title: Insulin‐dependent Diabetes Mellitus (IDDM): Identifying the Disease‐causing Gene at the IDDM11 Locus
 
How to Cite close
Zollo, Massimo, Dear, Paul, and Pociot, Flemming(Sep 2005) Insulin‐dependent Diabetes Mellitus (IDDM): Identifying the Disease‐causing Gene at the IDDM11 Locus. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005377]