Linkage Mapping of Thiel–Behnke Corneal Dystrophy (CDB2) to Chromosome 10q23–q24

Yee, Richard W.; Sullivan, Lori S.; Lai, Hong; Stock, Emmelie; Lu, Yuhun; Khan, Mohammed N.; Blanton, Susan H.; Daiger, Stephen P.

doi:10.1006/geno.1997.5028

Cited by 64 publications

(39 citation statements)

References 10 publications

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“…Another disease mapped to the vicinity of the PRC locus is Thiel-Behnke corneal dystrophy, which has been linked to 10q23-24 (34). While these ocular diseases, at a first glance, do not appear to be linked to NRF-1-dependent gene expression, it has been shown that a loss of function of NRF-1 in zebra fish led to extensive degeneration of photoreceptors and their precursors (3).…”

Section: Discussionmentioning

confidence: 99%

PGC-1-Related Coactivator, a Novel, Serum-Inducible Coactivator of Nuclear Respiratory Factor 1-Dependent Transcription in Mammalian Cells

Andersson

Scarpulla

2001

Molecular and Cellular Biology

322

321

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The thermogenic peroxisome proliferator-activated receptor ␥ (PPAR-␥) coactivator 1 (PGC-1) has previously been shown to activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF-1). In order to identify related coactivators that act through NRF-1, we searched the databases for sequences with similarities to PGC-1. Here, we describe the first characterization of a 177-kDa transcriptional coactivator, designated PGC-1-related coactivator (PRC). PRC is ubiquitously expressed in murine and human tissues and cell lines; but unlike PGC-1, PRC was not dramatically up-regulated during thermogenesis in brown fat. However, its expression was down-regulated in quiescent BALB/3T3 cells and was rapidly induced by reintroduction of serum, conditions where PGC-1 was not detected. PRC activated NRF-1-dependent promoters in a manner similar to that observed for PGC-1. Moreover, NRF-1 was immunoprecipitated from cell extracts by antibodies directed against PRC, and both proteins were colocalized to the nucleoplasm by confocal laser scanning microscopy. PRC interacts in vitro with the NRF-1 DNA binding domain through two distinct recognition motifs that are separated by an unstructured proline-rich region. PRC also contains a potent transcriptional activation domain in its amino terminus adjacent to an LXXLL motif. The spatial arrangement of these functional domains coincides with those found in PGC-1, supporting the conclusion that PRC and PGC-1 are structurally and functionally related. We conclude that PRC is a functional relative of PGC-1 that operates through NRF-1 and possibly other activators in response to proliferative signals.Nuclear respiratory factor 1 (NRF-1) was originally identified as a nuclear transcription factor that trans-activates the promoters of a number of mitochondrion-related genes in vitro (5, 9,10, 31). These include respiratory subunits and the ratelimiting heme biosynthetic enzyme, as well as factors involved in the replication and transcription of mitochondrial DNA (reviewed in reference 25). In addition to its proposed role in respiratory chain expression, NRF-1 has also been implicated in other cellular functions. Most recently, genes encoding two rate-limiting enzymes in purine nucleotide biosynthesis (6), a receptor involved in chemokine signal transduction (32), a subunit of a neural receptor (20), and the human polio virus receptor CD155 (27) were all shown to have functional NRF-1 binding sites in their promoters. Moreover, we recently established that targeted disruption of the NRF-1 gene in mice results in early embryonic lethality associated with a deficiency in mitochondrial DNA (15). These observations are consistent with a broad role for NRF-1 in growth and development.

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Section: Discussionmentioning

confidence: 99%

PGC-1-Related Coactivator, a Novel, Serum-Inducible Coactivator of Nuclear Respiratory Factor 1-Dependent Transcription in Mammalian Cells

Andersson

Scarpulla

2001

Molecular and Cellular Biology

322

321

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“…Aside from the TGFBI related CDTB another variant has been mapped to human chromosome 10 (10q23-q24) [Yee et al, 1997] in a family in which the presence of the peculiar curly fibers was documented [Lohse et al, 1989].…”

Section: Thiel-behnke Corneal Dystrophymentioning

confidence: 99%

TGFBI gene mutations in corneal dystrophies

2006

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The lattice corneal dystrophies (LCD) and granular corneal dystrophies (GCD) are autosomal dominant disorders of the corneal stroma. They are bilateral, progressive conditions characterized by the formation of opacities arising due to the deposition of insoluble material in the corneal stroma leading to visual impairment. The LCDs and GCDs are distinguished from each other and are divided into subtypes on the basis of the clinical appearance of the opacities, clinical features of the disease, and on histopathological staining properties of the deposits. The GCDs and most types of LCD arise from mutations in the transforming growth factor beta-induced (TGFBI) gene on chromosome 5q31. Over 30 mutations causing LCD and GCD have been identified so far in the TGFBI. There are two mutation hotspots corresponding to arginine residues at positions 124 and 555 of the transforming growth factor beta induced protein (TGFBIp) and they are the most frequent sites of mutation in various populations. Mutations at either of these two hotspots result in specific types of LCD or GCD. The majority of identified mutations involve residues in the fourth fasciclin-like domain of TGFBIp.

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“…We report here its genomic structure and chromosomal location. (18), juvenile intestinal polyposis (19), infantile onset spinocerebellar ataxia (20), corneal dystrophy of Bowman layer (21), and partial epilepsy (22). However, none of these syndromes is easily reconcilable with the pattern of Cig30 expression observed in the mouse model (brown fat, liver, skin) nor with the tentative biochemical role of the CIG30 protein (biosynthesis of complex lipids).…”

Section: Discussionmentioning

confidence: 99%

Cig30 and Pitx3 Genes Are Arranged in a Partially Overlapping Tail-to-Tail Array Resulting in Complementary Transcripts

Tvrdík

Asadi

Kozak

et al. 1999

Journal of Biological Chemistry

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Linkage Mapping of Thiel–Behnke Corneal Dystrophy (CDB2) to Chromosome 10q23–q24

Cited by 64 publications

References 10 publications

PGC-1-Related Coactivator, a Novel, Serum-Inducible Coactivator of Nuclear Respiratory Factor 1-Dependent Transcription in Mammalian Cells

PGC-1-Related Coactivator, a Novel, Serum-Inducible Coactivator of Nuclear Respiratory Factor 1-Dependent Transcription in Mammalian Cells

TGFBI gene mutations in corneal dystrophies

Cig30 and Pitx3 Genes Are Arranged in a Partially Overlapping Tail-to-Tail Array Resulting in Complementary Transcripts

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