YAC and Cosmid Contigs Encompassing the Fukuyama-Type Congenital Muscular Dystrophy (FCMD) Candidate Region on 9q31

Miyake, Masashi; Nakahori, Yutaka; Matsushita, Ikumi; Kobayashi, Kenzo; Mizuno, Kunihiko; Hirai, Momoki; Kanazawa, Ichiro; Nakagome, Yasuo; Tokunaga, Katsushi; Toda, Tatsushi

doi:10.1006/geno.1996.4584

Cited by 19 publications

(15 citation statements)

References 28 publications

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“…A few genes have been mapped in this region but only the dysautonia gene (DYS) and the Fukuyama-type congenital muscular dystrophy gene (FCMD) seem candidate tumor suppressor genes. The DYS gene has been narrowed to the region between D9S310 and D9S261, a small region between D9S172 and D9S58 (Pericak-Vance et al, 1995) while the FCMD gene has been mapped to an approximately 3 cM interval between D9S306 (identical to D9S53) and D9S172 (Miyake et al, 1997). Further investigation of this region will be necessary to clarify whether a putative tumor suppressor locus is located proximally or distally to D9S172.…”

Section: Discussionmentioning

confidence: 99%

Four tumor suppressor loci on chromosome 9q in bladder cancer: evidence for two novel candidate regions at 9q22.3 and 9q31

et al. 1999

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The most common genetic alteration identi®ed in transitional cell carcinoma (TCC) of the bladder is loss of heterozygosity (LOH) on chromosome 9. However, localization of tumor suppressor genes on 9q has been hampered by the low frequency of subchromosomal deletions. We have analysed 139 primary, initial low stage TCC of the bladder using a panel of 28 microsatellite markers spanning chromosome 9 at an average distance of 5 Mb, following a primer-extension preampli®cation (PEP) technique. Sixty-seven (48%) tumors showed LOH at one or more loci and partial deletions were detected in 62 (45%) tumors; apparent monosomy 9 was detected in only ®ve (4%) tumors. Deletions were more frequent on 9q (44%) than on 9p (23%), the latter being mostly associated with 9q deletion, suggesting that alteration of genes on 9q may be an early event associated with super®cial papillary tumors. Combined data from the cases with partial 9q deletions displayed four candidate regions for tumor suppressor loci, based on the frequency of deletion observed and tumors with unique deletions at these sites. In two tumors, the unique partial deletion comprised D9S12 at 9q22.3, a region encompassing loci for the Gorlin syndrome and multiple self-healing squamous epithelioma gene. In two other tumors, the single LOH was identi®ed at the D9S172 locus at 9q31-32 where the dysautonia and Fukuyama-type congenital muscular dystrophy genes have been located. One tumor showed unique LOH at the GSN locus at 9q33, a region frequently deleted in other sporadic tumors while the fourth region of deletion was observed at 9q34 between ASS and ABL-1, in two tumors. This region is frequently deleted in tumors and encompasses the locus for the hereditary hemorrhagic telangiectasia gene. These ®ndings suggest four target regions on 9q within which suppressor genes for TCC may reside.

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Section: Discussionmentioning

confidence: 99%

Four tumor suppressor loci on chromosome 9q in bladder cancer: evidence for two novel candidate regions at 9q22.3 and 9q31

et al. 1999

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“…Walker-Warburg syndrome (OMIM:236670), a recessively inherited disorder characterized by markedly disorganized cytoarchitecture, lack of lamination, numerous glial heterotopias, and encephalocele, in some cases is mapped to 9q31 (9). Fukuyama muscular distrophy (OMIM: 253800), characterized by cerebral and cerebellar micropolygyria, fibroglial proliferation of the leptomeninges, hydrocephalus, focal interhemispheric fusion, and hypoplasia of the corticospinal tracts is also mapped to 9q31 (10). The clinical characterization of these conditions is difficult due to the complexity of symptoms, therefore, the existence of endophenotypes is a strong possibility and may help to refine diagnosis in both diseases.…”

Section: Discussionmentioning

confidence: 98%

Structural Analysis and Mutation Detection Strategy for the Human LamC3 Gene

Cserhalmi-Friedman

Olson

Koch

et al. 2001

Biochemical and Biophysical Research Communications

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“…1) were determined by analysis of 3.5 Mb of a YAC contig including the D9S306-D9S172 interval on chromosome 9g31 (Miyake et al 1997). Construction of cosmid contigs and lo- Because of the insufficient resolution capacity of meiotic mapping, the recombination fractions between the marker loci and the FCMD locus were estimated from physical distances.…”

Section: Physical Mapping and Recombination Fractionsmentioning

confidence: 99%

“…In this candidate region, evidence was provided for strong linkage disequilibrium (LD) between FCMD and D9S306 on 9g31 (Toda et al 1994). To facilitate the identification of the disease gene, a 3.5-Mb genomic region including the D9S306-D9S172 interval was covered by yeast artificial chromosome (YAC) clones (Miyake et al 1997). Out of the three cosmid contigs derived from YACs, one contains D9S2107, the marker that shows the strongest LD with FCMD (Toda et al 1996).…”

Section: Introductionmentioning

confidence: 99%

Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population

et al. 2000

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Fukuyama-type congenital muscular dystrophy (FCMD), an autosomal recessive disorder with a high prevalence in the Japanese population, is characterised by severe muscular dystrophy associated with brain malformation (cortical dysgenesis) and mental retardation. In Japan, 87% of FCMD-bearing chromosomes carry a 3-kb retrotransposal insertion of tandemly repeated sequences within the disease gene recently identified on chromosome 9q31, and most of them share a common founder haplotype. FCMD is the first human disease known to be caused primarily by an ancient retrotransposal integration. By applying two methods for the study of linkage disequilibrium between flanking polymorphic markers and the disease locus, and of its decay over time, the age of the insertion mutation causing FCMD in Japanese patients is calculated to be approximately 102 generations (95% confidence interval: 86-117 g), or slightly less. The estimated age dates the most recent common ancestor of the mutation-bearing chromosomes back to the time (or a few centuries before) the Yayoi people started migrating to Japan from the Korean peninsula. This finding makes the molecular population genetics of FCMD understandable in the context of Japan's history and the founder effect consistent with the prevalent theory on the origins of the modern Japanese population.

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YAC and Cosmid Contigs Encompassing the Fukuyama-Type Congenital Muscular Dystrophy (FCMD) Candidate Region on 9q31

Cited by 19 publications

References 28 publications

Four tumor suppressor loci on chromosome 9q in bladder cancer: evidence for two novel candidate regions at 9q22.3 and 9q31

Four tumor suppressor loci on chromosome 9q in bladder cancer: evidence for two novel candidate regions at 9q22.3 and 9q31

Structural Analysis and Mutation Detection Strategy for the Human LamC3 Gene

Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population

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