Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences

Buiting, Karin; Neumann, Michael; Lüdecke, H J; Senger, Gabriele; Claussen, Uwe; Antich, J; Passarge, Eberhard; Horsthemke, Bernhard

doi:10.1016/0888-7543(90)90481-9

Cited by 61 publications

(17 citation statements)

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“…Donlon et al (13) used flow sorting to isolate DNA markers for proximal 15q. Using microdissection and microcloning of banded metaphase chromosomes, we have recently isolated several clones from this region (14). Here we report the detailed characterization of the microclone MN7.…”

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confidence: 99%

“…As reported previously, MN7 is evolutionarily conserved (14). To investigate whether MN7 contains gene sequences, we screened a human placental cDNA library.…”

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confidence: 99%

“…The final wash was usually at 650C in 150 mM sodium chloride/15 mM sodium citrate (lx SSC) containing 0.1% SDS. The following probes were used: HuD2 (IGHDY2) (17), MN60 (D15564) (14), MN8 (D15S77) (14), MN47 (D15S78) (14), MN43 (D15S80) (14), MN28 (D15S81) (14), PW66 (D15S79) (14), PW71 (D15S63) (14), ML34 (D15S9) (13), 3-21 (D15S10) (13), IR4-3R (D15S11) (13), IR10-1 (D15S12) (13), IR39 (D15S18) (13), 28,33-H3 (GABRB3) (18), CMW1 (D15S24) (19) ITo whom reprint requests should be addressed.…”

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confidence: 99%

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A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

Buiting

Greger

Brownstein

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

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The genetic defects in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) map to 15q11-13. Using microdissection, we have recently isolated several DNA probes for the critical region. Here we report that microclone MN7 detects multiple loci in 15q11-13 and 16p11.2. Eight yeast artificial chromosome (YAC) clones, two genomic phage clones, and two placenta cDNA clones were isolated to analyze these loci in detail. Two of the YAC clones map to 16p. Six YAC clones and two genomic phage clones contain a total of four or five different MN7 copies, which are spread over a large distance within 15q11-13. One cDNA clone is from chromosome 15 and one is from chromosome 16. The chromosome 15 cDNA detects transcripts of 14 and 8 kilobases in various human tissues. The presence of multiple copies of the MN7 gene family in proximal 15q may conceivably be related to the instability of this region and thus to the etiology of associated disorders.

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confidence: 99%

“…As reported previously, MN7 is evolutionarily conserved (14). To investigate whether MN7 contains gene sequences, we screened a human placental cDNA library.…”

mentioning

confidence: 99%

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confidence: 99%

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A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

Buiting

Greger

Brownstein

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

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“…Nevertheless, the proportion (13.5 ~) of unique microclones obtained was smaller than that (20-50 ~) from the microdissection of other chromosomal regions with the same methods, although their mean size was well comparable to that from other regions Seki et al, 1993;Karakawa et al, 1993). There has been only a similar 15qll-q13 specific microlibrary that was constructed by means of microdissection and subsequent PCR (Ltidecke et al, 1990;Buiting et al, 1990), where unique clones took 39~, the cloning efficiency being comparable to that (39 ~) in 22q12-q13.1 specific microclones, but lower than that (63-80~) in their other microclone libraries (Liidecke et al, 1990). Thus, it is conceivable that the fewer unique clones obtained from 15q11-q13 in the present study are attributable to a particular structure of DNA in this chromosomal region and/or in the paracentromeric regions of acrocentric chromosomes.…”

Section: Discussionmentioning

confidence: 89%

“…Among region-specific DNA libraries constructed with this method (Ltidecke et al, 1989;Buiting et al, 1990;Hirota et al, 1992;Seki et al, 1993), there has been such a library specific for 15qll-q13 (Buiting et al, 1990), from which several microclones were mapped at a segment involved in deletions among PWS patients (Buiting et al, 1992). However, since a microctone library does not completely cover the DNA at a defined region and the gaps among the YAC contigs at the 15ql 1-q13 region have not been bridged (Donlon,I992), more number of cosmid clones are necessary to analyze the genomic structure of the region.…”

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Cosmid clones from microdissected human chromosomal region 15q11–q13

et al. 1993

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SummaryA human chromosomal region, 15q11-q13, was microdissected, its DNA was amplified with the primer-linker PCR method, and the PCR products were cloned into a plasmid vector to construct a microclone library. Of 193 microclones analyzed with Southern blot hybridization on hybrid cell panels, 26 (13.5~) were either single-copy (unique) or low-repetitive fragments. By screening of a cosmid library of human genomic DNA using the 26 microclones as probes, 47 positive cosmids were obtained and underwent regional mapping with chromosome fluorescence in situ hybridization (FISH). Sixteen cosmids gave FISH signals at 15p-cen, 5 at 15qll-q13, 6 at 15q22-q26, 3 at other chromosomes, and 17 no signal. These 27 cosmids mapped to chromosome 15 are useful additions to the inventory of DNA markers of this chromosome including the much interested Prader-Willi/Angelman syndrome region.

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Structure and function of the human chromosome 15 imprinting center

Horsthemke¹

1997

J. Cell. Physiol.

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The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct neurogenetic disorders that are caused by a deficiency of paternal (PWS) or maternal (AS) contributions to chromosome 15. The affected genes are located in an imprinted chromosomal domain of 2 Mb, which is controlled by an imprinting center (IC). The IC has been mapped to a 100-kb region including the SNRPN gene and appears to have a bipartite structure. Mutations of the proximal part of the IC block the paternal-->maternal imprint switch during female gametogenesis, whereas mutations of the distal part of the IC block the maternal-->paternal imprint switch during, male gametogenesis. Imprinting involves differential DNA methylation, which appears to be instrumental in the regulation of gene activity and can be used for diagnostic purposes.

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Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences

Cited by 61 publications

References 20 publications

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

Cosmid clones from microdissected human chromosomal region 15q11–q13

Structure and function of the human chromosome 15 imprinting center

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