High-Resolution Transcript Map of the Region Spanning D12S1629 and D12S312 at Chromosome 12q13: Triple A Syndrome-Linked Region

Lee, Hyoungnam; Choi, Eun‐Kyung; Seomun, Young; Montgomery, Kate; Huebner, Angela; Lee, Eunice; Lau, Stephanie; Joo, Choun‐Ki; Kucherlapati, Raju; Yoon, Sungjoo Kim

doi:10.1101/gr.142100

Cited by 9 publications

(2 citation statements)

References 40 publications

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“…This region harbours many known genes, the majority of which are type II keratins, K1, 2, 4–8 and 18, and the basic hair keratin genes Hb1, 3 and 5. Other genes also located there include RARG, SOAT2 and ITGB7 24 . K1 and K2e were considered the most likely candidates for this disorder due to reported association with similar diseases, such as epidermolytic hyperkeratosis, IBS and ADIE 10,25 , 26 .…”

Section: Discussionmentioning

confidence: 99%

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13

Hatsell¹,

Stevens²,

Jackson

et al. 2003

Br J Dermatol

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A new variant of congenital exfoliative ichthyosis in two related Bedouin families is reported. The ichthyosis appeared shortly after birth as a fine peeling of nonerythematous skin on the palms and soles. The prominent well-demarcated areas of denuded skin in moist and traumatized regions resembled the 'mauserung' phenomenon of ichthyosis bullosa of Siemens (IBS). Unlike in IBS, epidermolysis is absent on histological examination. Electron microscopy revealed a prominent intercellular oedema and numerous aggregates of keratin filaments in basal keratinocytes. Abnormal keratin (K) 1 expression was seen in the affected epidermis; however, all other keratins, including K2e, had a distribution comparable to that seen in normal controls. A maximum two-point LOD score of 2.53 and multipoint LOD score of 3.76 were obtained for marker D12S390, suggesting linkage to the type II keratin cluster on chromosome 12q13. Sequencing of both the K1 gene, the promotor and the 3' calcium regulatory region did not reveal a mutation. K2e and K5 genes, as well as the genes harboured within the minimal region, such as retinoic acid receptor gamma, sterol O-acyltransferase 2, integrin beta7 and insulin-like growth factor binding protein-6, were also excluded. This combination of clinical, histological, ultrastructural and genetic features has not been previously reported in other congenital exfoliative ichthyoses. We therefore suggest that it represents a new form of exfoliative ichthyosis.

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Section: Discussionmentioning

confidence: 99%

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13

Hatsell¹,

Stevens²,

Jackson

et al. 2003

Br J Dermatol

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“…We generated a BAC-based STS-content physical map for the region that cosegregates with cataract in CXSD mice using the strategy described previously (Lee et al, 2000). Briefly, the large insert clones containing genomic DNAs of the critical region were identified by library screening and the overlaps of the sequences of the inserts were determined by the presence of the STSs in the clones.…”

Section: Genomic Organization Of the Lr2 Locusmentioning

confidence: 99%

Genomic organization of the region spanning D14Mit262 and D14Mit86 on mouse chromosome 14 and exclusion of Adam28 and Adamdec1 as the cataract-causing gene, lr2

Kim

Rhee

Bae

et al. 2007

Cytogenet Genome Res

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Mice with recessive cataract, CXSD, show the first clinical symptoms of cataract at five weeks, with complete penetrance. We previously localized the cataract-causing lens rupture 2 gene (lr2) to mouse chromosome 14. In the process of positional cloning of the lr2 gene, we determined the genomic organization of the critical region, defined by D14Mit262 and D14Mit86, and compared it to recently published map information. In addition, mutational analysis using reverse transcription polymerase chain reaction (RT-PCR) followed by direct sequencing as well as quantitative realtime PCR (RQ-PCR) was performed to investigate Adam28 and Adamdec1 as lr2 candidate genes in this study. There was no mutation cosegregating with the phenotype of CXSD mice, which excluded these genes as the lr2 gene. Identification of more transcripts from this region and their mutation analyses are required to isolate the lr2 gene.

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Flow cytometric measurement of fluorescence (Förster) resonance energy transfer from cyan fluorescent protein to yellow fluorescent protein using single‐laser excitation at 458 nm

Bradrick

Karpova

et al. 2003

Cytometry Pt A

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Background: Use of distinct green fluorescent protein (GFP) variants permits the study of protein-protein interactions and colocalization in viable transfected cells by fluorescence (Förster) resonance energy transfer (FRET). Flow cytometry is a sensitive method to detect FRET. However, the typical dual-laser methods used in flow cytometric FRET assays are not generally applicable because they require a specialized krypton ultraviolet (UV) laser. The purpose of this work was to develop a flow cytometric method to detect FRET between cyan fluorescent protein (CFP; donor) and yellow fluorescent protein (YFP; acceptor) by using the 458-nm excitation from a single tunable argon-ion laser. Methods: FUSE-binding protein (FBP) interacting repressor (FIR) and FBP are c-myc transcription factors and are known to interact physically. To examine their interaction within viable cells, FIR and the binding motif of FBP, the FBP central domain (FBPcd), were fused with CFP and YFP, respectively, and this pair of fluorescently-tagged proteins was used to detect FRET in vivo. Cells transfected with expression plasmids encoding a CFP-FIR fusion protein and YFP as a negative control, a CFP-YFP fusion protein as a positive control, or CFP-FIR and YFP-FBPcd fusion proteins were examined for FRET after excitation with a 458-nm line from a tunable argon-ion laser. FRET was measured as the ratio of YFP:CFP emission or as YFP emission at 564 -606 nm. Conventional FRET using the 413-nm UV line from a krypton laser was examined for comparison. Fluorescence signals were separated with a customized optical filter configuration using 530-nm shortpass, 500-nm longpass, and 560-nm shortpass dichroics in

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High-Resolution Transcript Map of the Region Spanning D12S1629 and D12S312 at Chromosome 12q13: Triple A Syndrome-Linked Region

Cited by 9 publications

References 40 publications

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13

Genomic organization of the region spanning <i>D14Mit262</i> and <i>D14Mit86</i> on mouse chromosome 14 and exclusion of <i>Adam28</i> and <i>Adamdec1</i> as the cataract-causing gene, <i>lr2</i>

Flow cytometric measurement of fluorescence (Förster) resonance energy transfer from cyan fluorescent protein to yellow fluorescent protein using single‐laser excitation at 458 nm

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