Contig Maps and Genomic Sequencing Identify Candidate Genes in the Usher 1C Locus

Higgins, Michael J.; Day, Colleen D.; Smilinich, Nancy J.; Ni, Li; Cooper, Paul R.; Nowak, Norma J.; Davies, Chris; Jong, Pieter J. de; Hejtmancik, Fielding; Evans, Glen A.; Smith, Richard J.H.; Shows, Thomas B.

doi:10.1101/gr.8.1.57

Cited by 15 publications

(12 citation statements)

References 52 publications

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“…PACs 239B22, 306B4, 169P3 and 1034G4 have been localized to the 11p15.1 → p14 region using FISH (Higgins et al, 1998). FISH analysis (Trask, 1991) using PAC 6-87I17, which con- tains PIK3C2A, RPS13 and OR7E14P confirmed that these genes map to this region (Fig.…”

Section: Resultsmentioning

confidence: 65%

“…The BLAST component of the NIX application identified the three genes previously mapped to the region, the ABCC8 gene, the KCNJ11 gene and the NUCB2 gene (Ayyagari et al, 1996;Higgins et al, 1998). Three other previously identified but unmapped genes were also identified, PIK3C2A (phosphoinositol-3-kinase, class 2, alpha) (Domin et al, 1997), was detected within the sequence of PACs 1034G4, 292D23 and 6-87I17.…”

Section: Resultsmentioning

confidence: 99%

“…Figure 1 shows the position of the six genes with respect to the PACs and genetic markers on 11p15.1 → p14. Previously, we generated a transcript map across 11p15.1 → p14 (Higgins et al, 1998). In order to add to this preliminary transcription map direct cDNA selection using a human fetal cochlear cDNA library (Robertson et al, 1994) identified a clone with 99 % homology to OR7E14P and four cDNA clones that were analogous to the RPS13 gene (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…We demonstrate the fine mapping of six genes and 13 loci including ESTs, cDNAs and trapped exons in a 400-kb gene rich region of chromosome 11. To date, three known genes have been localized to the region between D11S902 and D11S1890, the sulfonylurea receptor 1 (ABCC8) gene (Ayyagari et al, 1996), the ß-cell inward rectifying potassium channel (KCNJ11) gene, and the DNA binding/ EF hand/acidic amino-acid-rich (NUCB2) gene (Higgins et al, 1998). Here we refine the mapping of ABCC8, KCNJ11 and NUCB2 and identify and localize additional genes to this region (Fig.…”

mentioning

confidence: 99%

“…1). A PAC clone contig of the D11S902-D11S1890 region was generated by Higgins et al (1998). In a 400-kb region of this contig, two new genes (PIK3C2A and RPS13), a pseudogene (OR7E14P) and 13 novel transcripts have been identified and mapped in relation to these three existing genes (Fig.…”

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confidence: 99%

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Mapping of genes and transcribed sequences in a gene rich 400-kb region on human chromosome 11p15.1→p14

Caldwell¹,

Eddy²,

Day³

et al. 2001

Cytogenet Genome Res

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Section: Resultsmentioning

confidence: 65%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Mapping of genes and transcribed sequences in a gene rich 400-kb region on human chromosome 11p15.1→p14

Caldwell¹,

Eddy²,

Day³

et al. 2001

Cytogenet Genome Res

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The Usher syndromes

Keats

Corey²

1999

Am. J. Med. Genet.

140

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Mutations in the gene (MYO7A) encoding myosin-VIIa, a member of the large superfamily of myosin motor proteins that move on cytoplasmic actin filaments, and in the USH2A gene, which encodes a novel protein resembling an extracellular matrix protein or a cell adhesion molecule, both cause Usher syndrome (USH), a clinically heterogeneous autosomal recessive disorder comprising hearing and visual impairment. Patients with USH1 have severe to profound congenital hearing impairment, vestibular dysfunction, and retinal degeneration beginning in childhood, while those with USH2 have moderate to severe hearing impairment, normal vestibular function, and later onset of retinal degeneration. USH3 is characterized by progressive hearing loss and variable age of onset of retinal degeneration. The phenotype resulting from MYO7A and USH2A mutations is variable. While most MYO7A mutations cause USH1, some cause nonsyndromic hearing impairment, and one USH3 phenotype has been described. USH2A mutations cause atypical USH as well as USH2. MYO7A is on chromosome region 11q13 and USH2A is on 1q41. Seven other USH genes have been mapped but have not yet been identified. USH1A, USH1C, USH1D, USH1E, and USH1F have been assigned to chromosome bands 14q32, 11p15.1, 10q, 21q21, and 10, respectively, while USH2B is on 5q, and USH3 is at 3q21-q25. Myosin VIIa mutations also result in the shaker-1 (sh1) mouse, providing a model for functional studies. One possibility is that myosin-VIIa is required for linking stereocilia in the sensory hair bundle; another is that it may be needed for membrane trafficking. The ongoing studies of myosin-VIIa, the USH2A protein, and the yet to be identified proteins encoded by the other USH genes will advance understanding of the Usher syndromes and contribute to the development of effective therapies. Am. J. Med. Genet. (Semin. Med. Genet.) 89:158-166, 1999.

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