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Evaluation and molecular characterization of EHD1, a candidate gene for Bardet–Biedl Syndrome 1 (BBS1)

Haider, N.B., Searby, C., Galperin, E., Mintz, L., Horowitz, M., Stone, E.M., Sheffield, V.C.·1999·Gene
DOI 10.1016/s0378-1119(99)00395-9
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Abstract

Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, obesity, retinitis pigmentosa, polydactyly, short stature, and hypogenitalism. To date, five BBS loci have been identified. BBS1, located on 11q13, is reported to be the most prevalent form of BBS in the Caucasian population. A positional cloning approach is being used to identify the gene responsible for BBS1. EHD1, a new member of the EH-domain containing proteins, was identified in this study as lying within the BBS1 disease interval. RNA analysis of many tissues revealed that expression of EHD1 is ubiquitous, with elevated levels in the testis. The genomic structure of EHD1 was elucidated by direct BAC sequencing. Following identification of the intron/exon boundaries, mutational analysis was performed by single strand conformation polymorphism and direct sequencing of affected individuals from several large kindreds linked to the BBS1 locus, as well as a cohort of unrelated probands. No disease-causing mutations were identified in this analysis, but several polymorphisms were found.

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Crossref · 10.1016/s0378-1119(99)00395-9

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  • EHD1 plays a critical role in recycling of plasma membrane receptors (e.g., transferrin) internalized through clathrin-coated pits or independently of clathrin.

    “EHD1 [14] has been found to play a critical role in the recycling of plasma membrane receptors (ie., transferrin) that are internalized either through clathrin-coated pits [15-17], or independently of clathrin (MHC-I or β1 integrins) [18,19].”

    From EHD1 regulates cholesterol homeostasis and lipid droplet storage (2007) · cites this paper as [17]

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Research works printed but not linked: 26

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  3. Bruford, 1997, Linkage mapping in 29 Bardet–Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3–q23 and 16q21, Genomics, 41, 93, 10.1006/geno.1997.4613 · DOI
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  6. Chen, 1998, Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis, Nature, 394, 793, 10.1038/29555 · DOI · Paper page
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  11. Guru, 1997, A transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locus, PCR Methods Appl., 7, 725, 10.1101/gr.7.7.725 · DOI
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  13. Hellqvist, 1998, The human forkhead protein FREAC-2 contains two functionally redundant activation domains and interacts with TBP and TFIIB, J. Biol. Chem., 273, 23335, 10.1074/jbc.273.36.23335 · DOI
  14. Kwitek-Black, 1993, Linkage of Bardet–Biedl to chromosome 16q and evidence for non-allelic heterogeneity, Nat. Genet., 5, 392, 10.1038/ng1293-392 · DOI
  15. Leppert, 1994, Bardet–Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous, Nat. Genet., 6, 108, 10.1038/ng0594-108 · DOI
  16. Mintz, 1999, EHD1 — an EH-domain containing protein with a specific expression pattern, Genomics, 10.1006/geno.1999.5800 · DOI · Paper page
  17. Ozer, 1995, Clinical features of Bardet–Biedl syndrome, Acta Paed. Jpn., 37, 233
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  26. Young, 1998, A fifth locus for Bardet–Biedl syndrome maps to 2q31, Am. J. Hum. Genet., G3, A317

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Metadata

Authors
Haider, N. B., Searby, C., Galperin, E., Mintz, L., Horowitz, M., Stone, E. M., & Sheffield, V. C.
Venue
Gene
Publisher
Elsevier BV
Published
1999-11
Volume
240
Issue
1
Pages
227-232
ISSN
0378-1119
DOI
10.1016/s0378-1119(99)00395-9
Cited by
15
References
1
Language
en
Licence
Funders
National Institutes of Health (NEI R01-EY-11298)

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