A PCR-Based Genetic Linkage Map of Human Chromosome 16

Shen, Yang; Kozman, H.; Thompson, Andrew; Phillips, Hilary; Holman, Katherine; Nancarrow, J.K.; Lane, Sharon; Chen, L.-Z.; Apostolou, Sinoula; Doggett, Norman A.; Callen, David F.; Mulley, John C.; Sutherland, Grant R.; Richards, Robert I.

doi:10.1006/geno.1994.1346

Cited by 28 publications

(21 citation statements)

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“…2): D16S283, Kg8, and D16S525 (12,13); markers from other chromosomal regions including D4S423 and D4S1563 (14) from the PKD2 region of chromosome 4; D3S1478 (chromosome 3p21); IFN (chromosome 9p); p53 (chromosome 17p13); and D9S66 (chromosome 9q34).…”

Section: Methodsmentioning

confidence: 99%

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Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.

Brasier¹,

Henske²

1997

J. Clin. Invest.

238

140

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It is not known whether mutations in the PKD1 gene cause autosomal dominant polycystic kidney disease (PKD) by an activating (gain-of-function) or an inactivating (loss-of-function) model. We analyzed DNA from cyst epithelial cells for loss of heterozygosity (LOH) in the PKD1 region of chromosome 16p13 using microsatellite markers. 29 cysts from four patients were studied. Five cysts from three patients had chromosome 16p13 LOH. Four of the cysts had loss of two chromosome 16p13 markers that flank the PKD1 gene. In two patients, microsatellite analysis of family members was consistent with loss of the wild-type copy of PKD1 in the cysts. In the third patient, 16p13 LOH was detected in three separate cysts, all of which showed loss of the same alleles. Chromosome 3p21 LOH was detected in one cyst. No LOH was detected in four other genomic regions. These results demonstrate that some renal cyst epithelial cells exhibit clonal chromosomal abnormalities with loss of the wild-type copy of PKD1. This supports a loss-of-function model for autosomal dominant PKD, with a germline mutation inactivating one copy of PKD1 and somatic mutation or deletion inactivating the remaining wild-type copy. ( J. Clin. Invest. 1997. 99:194-199.)

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Section: Methodsmentioning

confidence: 99%

“…Although a great deal is known about the biology and biochemistry of renal cysts (8)(9)(10)(11)(12)(13)(14)(15)(16), it is not known how PKD1 mutations cause cysts. PKD1 germline mutations could activate polycystin, giving it a new or unregulated function.…”

Section: Introductionmentioning

confidence: 99%

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.

Brasier¹,

Henske²

1997

J. Clin. Invest.

238

140

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“…Common fragile sites might predispose to speci®c chromosomal breakage associated with deletion, ampli®cation, and/or translocation in certain forms of cancer (Shen et al, 1994). This is the case for fragile site FRA3B and may be for FRA7G in several types of cancer .…”

Section: Introductionmentioning

confidence: 99%

Alternative transcripts of the candidate tumor suppressor gene, WWOX, are expressed at high levels in human breast tumors

et al. 2002

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The presence of putative tumor-suppressor genes on chromosome 16q23.2-24.1 has been suggested by LOH analysis in several cancer types. This region overlaps with the fragile site FRA16D and the region of homozygous deletions found in several cancer types. The candidate gene WWOX/FOR has been mapped within this region. The mouse homologue of the WWOX protein has been de®ned as an apoptogenic protein and an essential partner of p53 in cell death, supporting WWOX as a tumor suppressor gene candidate. We performed an expression study of the WWOX/FOR gene in a series of human breast tumors and breast cancer cell lines, and detected reduced expression of the WWOX/ FOR transcript in a series of breast cancer cells. Furthermore, identi®cation of two distinct alternative WWOX transcripts expressed at high levels in human tumors suggests an involvement of the WWOX gene in breast cancer progression.

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“…It had three different types of fragile site and a selectable marker APRT in order to construct single whole or partial chromosome 16's in somatic cell hybrids, for ease of physical mapping of new markers (Callen et al, 1988). Next we did a correlation of the genetic and physical maps of chromosome 16 (Kozman & Mulley, 1996;Kozman et al, 1993), then a PCR based genetic map (Shen et al, 1994) and finally we coordinated the international multicenter consortium map of chromosome 16 to create the first definitive genetic map for human chromosome 16 (Kozman et al, 1995) incorporating all recognized genetic markers known at that time which had been genotyped on the same standard set of family DNA. These whole chromosome maps were placed in the public domain as fundamental resources for the international disease gene-mapping community for locating the genes for the many Mendelian genetic disorders to specific chromosomes that were without a home at that time.…”

Section: Genomics Of Human Chromosome 16mentioning

confidence: 99%