Refined Genetic Mapping of the Darier Locus to a &lt;1-cM Region of Chromosome 12q24.1, and Construction of a Complete, High-Resolution P1 Artificial Chromosome/Bacterial Artificial Chromosome Contig of the Critical Region

Monk, Sarah; Sakuntabhai, Anavaj; Carter, Simon A.; Bryce, Steven D.; Cox, Roger; Harrington, Louise; Levy, Elaine R.; Ruiz‐Pérez, Víctor L.; Katsantoni, Eleni; Kodvawala, Ahmer; Munro, Colin S.; Burge, Susan; Larrègue, M; Nagy, Gyula Richárd; Rees, Jonathan; Lathrop, Mark; Monaco, Anthony P.; Strachan, Tom; Hovnanian, Alain

doi:10.1086/301794

Cited by 19 publications

(18 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Pooled products were run on a 373A sequencer (Applied Biosystems), followed by analysis with GENESCAN (version 2.0) and GENOTYPER (version 2.1) software. Refined screening of chromosomal region 8p21 showing positive lod scores was carried out using radioactive genotyping of microsatellite markers from the Généthon linkage map as described in 21 .…”

Section: Genotypingmentioning

confidence: 99%

Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis

et al. 2000

Self Cite

View full text Add to dashboard Cite

Marie-Unna hypotrichosis (MU) is a rare autosomal dominant congenital alopecia characterised by progressive hair loss starting in early childhood, often aggravated at puberty and leading to scarring alopecia of variable severity. We have studied three multigeneration families of Belgian, British and French descent. The human genome was screened with microsatellite markers spaced at 10-cM intervals and significant evidence for linkage to the disease was observed on chromosome 8p21, with a maximum two-point lod score of 8.26 for D8S1786 at a recombination fraction of 0. Recombinants narrowed the region of interest to a genetic interval of about 12 cM flanked by markers D8S280 and D8S1839. This interval contains the hairless gene which is mutated in autosomal recessive congenital atrichia. Sequencing of the entire coding region and intronic splice sites of the hairless gene in these three families and in two unrelated familial cases revealed several polymorphic changes but failed to identify causative mutations. Nine other genes located within this region and expressed in skin were also excluded by mutation analysis. Together with a recent linkage study performed in a Dutch and a British family by van Steensel et al these results provide evidence for the presence of a gene distinct from hairless in chromosomal region 8p21 playing an important role in hair follicle biology.

show abstract

Section: Genotypingmentioning

confidence: 99%

Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis

et al. 2000

Self Cite

View full text Add to dashboard Cite

show abstract

“…Yeast chromosomal DNA was prepared in agarose plugs using the lithium dodecyl sulfate method and separated by pulsed-field gel electrophoresis (PFGE) as described in Monk et al, (1998). Following electrophoresis, the DNA was alkali transferred to Biodyne B nylon membranes (Pall) and was hybridized with total human DNA.…”

Section: Pulsed-field Gel Electrophoresis Analysis Of Yac and Pac Clonesmentioning

confidence: 99%

“…The filters were sequentially hybridized with the different OAS cDNA probes under hybridization and washing conditions as described (Monk et al, 1998).…”

Section: Southern Blots Of Ecori Digests Of Yac Pac Andmentioning

confidence: 99%

“…YAC DNA was biotinylated (Gibco Life Technologies) following standard procedures, and PAC57I11 was labeled with digoxigenin (DIG) (Boehringer Mannheim) and processed for FISH as described in Monk et al, (1998). Probes were visualized following amplification with antibodies conjugated to fluorescein isothiocyanate.…”

Section: Fluorescence In Situ Hybridization (Fish)mentioning

confidence: 99%

“…The cosmid contig (see Table 2) is represented by a gray horizontal bar. D12S2396 (P223G16CA) and D12S2397 (OAS-100CA) are polymorphic microsatellite markers that we previously isolated (Monk et al, 1998), WI-11137/TIGR:A004U31 are ESTs that do not share similarity with known proteins, D12S1960 (WI-8957)/ D12S2019 (WI-6962) and D12S1895 (SHGC-9870)/D12S1888 (SHGC-11202) are ESTs derived from OAS-40 and OAS-69, respectively. rearrangement, and that these genes were clustered within a 130-kb region, the observed size of the genomic insert of PAC336L20.…”

Section: Analysis Of Pac Clones Reveals Clustering Of the Three Oas Gmentioning

confidence: 99%

See 2 more Smart Citations

The Human 2′,5′-Oligoadenylate Synthetase Locus Is Composed of Three Distinct Genes Clustered on Chromosome 12q24.2 Encoding the 100-, 69-, and 40-kDa Forms

et al. 1998

Self Cite

View full text Add to dashboard Cite

Genome-wide search for linkage of bipolar affective disorders in a very large pedigree derived from a homogeneous population in Quebec points to a locus of major effect on chromosome 12q23-q24

Villeneuve²,

et al. 1999

View full text Add to dashboard Cite

We completed a genome-wide scan for susceptibility loci for bipolar affective disorders in families derived from a rather homogeneous population in the Province of Québec. The genetic homogeneity of this population stems from the migration of founding families into this relatively isolated area of Québec in the 1830s. A possible founder effect, combined with a prevalence of very large families, makes this population ideal for linkage studies. Genealogies for probands can be readily constructed from a population database of acts of baptism and marriage from the early 1830s up to the present time (the BALSAC register). We chose probands with a DSM III diagnosis of bipolar affective disorder and who may be grouped within large families having genealogical origins with the founding population of the Saguenay-Lac-St-Jean area. Living members (n approximately 120) of a very large pedigree were interviewed using the Structured Clinical Interview for DSM III (SCID I), SCID II, and with a family history questionnaire. A diagnostic panel evaluated multisource information (interview, medical records, family history) and pronounced best-estimate consensus diagnoses on all family members. Linkage, SimAPM, SimIBD, and sib-pair analyses have been performed with 332 microsatellite probes covering the entire genome at an average spacing of 11 cM. GENEHUNTER and haplotype analyses were performed on regions of interest. Analysis of a second large pedigree in the same regions of interest permitted confirmation of presumed linkages found in the region of chromosome 12q23-q24.

show abstract

Refined Genetic Mapping of the Darier Locus to a <1-cM Region of Chromosome 12q24.1, and Construction of a Complete, High-Resolution P1 Artificial Chromosome/Bacterial Artificial Chromosome Contig of the Critical Region

Cited by 19 publications

References 25 publications

Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis

Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis

The Human 2′,5′-Oligoadenylate Synthetase Locus Is Composed of Three Distinct Genes Clustered on Chromosome 12q24.2 Encoding the 100-, 69-, and 40-kDa Forms

Genome-wide search for linkage of bipolar affective disorders in a very large pedigree derived from a homogeneous population in Quebec points to a locus of major effect on chromosome 12q23-q24

Contact Info

Product

Resources

About