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

Abstract

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

Apelqvist A, Li H, Sommer L, et al. (1999) Notch signalling controls pancreatic cell differentiation. Nature 400: 877–881.

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.

Wass J and Shalet S (eds.) (2002) Oxford Textbook of Endocrinology and Diabetes Oxford, UK: Oxford University Press.

Web Links

HUGO Gene Nomenclature Committee (HGNC) http://www.gene.ucl.ac.uk/nomenclature

OMIM (Online Mendelian Inheritance in Man) http://www.ncbi.nlm.nih.gov

Sanger Centre (The MHC haplotype Project) http://www.sanger.ac.uk/HGP/Chr6/MHC/index.shtml

IDDM2 (insulin‐dependent diabetes mellitus 2); LocusID: 3401. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3401

IDDM11 (insulin‐dependent diabetes mellitus 11); LocusID: 3410. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3410

SEL1L (sel‐1 suppressor of lin‐12‐like (C. elegans)); LocusID: 6400. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6400

IDDM2 (insulin‐dependent diabetes mellitus 2); MIM number: 125852. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?125852

IDDM11 (insulin‐dependent diabetes mellitus 11); MIM number: 601208. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?601208

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

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

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]