Literature DB >> 1608955

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

K Buiting1, V Greger, B H Brownstein, R M Mohr, I Voiculescu, A Winterpacht, B Zabel, B Horsthemke.   

Abstract

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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Year:  1992        PMID： 1608955      PMCID： PMC49311          DOI： 10.1073/pnas.89.12.5457

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  24 in total

1.  Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction.

Authors:  E D Green; M V Olson
Journal:  Proc Natl Acad Sci U S A       Date:  1990-02       Impact factor: 11.205

2.  The association of Angelman's syndrome with deletions within 15q11-13.

Authors:  M Pembrey; S J Fennell; J van den Berghe; M Fitchett; D Summers; L Butler; C Clarke; M Griffiths; E Thompson; M Super
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

3.  In situ hybridization of metaphase and prometaphase chromosomes.

Authors:  S L Naylor; J R McGill; B U Zabel
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

4.  Second Annual Prader-Willi Syndrome Scientific Conference. Houston, June 17, 1987. Proceedings and abstracts.

Authors: 
Journal:  Am J Med Genet       Date:  1987-12

5.  Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.

Authors:  M G Butler; F J Meaney; C G Palmer
Journal:  Am J Med Genet       Date:  1986-03

6.  DNA-mediated transfer of the adenine phosphoribosyltransferase locus into mammalian cells.

Authors:  M Wigler; A Pellicer; S Silverstein; R Axel; G Urlaub; L Chasin
Journal:  Proc Natl Acad Sci U S A       Date:  1979-03       Impact factor: 11.205

7.  Is Angelman syndrome an alternate result of del(15)(q11q13)?

Authors:  R E Magenis; M G Brown; D A Lacy; S Budden; S LaFranchi
Journal:  Am J Med Genet       Date:  1987-12

8.  Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

Authors:  L C Kaplan; R Wharton; E Elias; F Mandell; T Donlon; S A Latt
Journal:  Am J Med Genet       Date:  1987-09

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

Authors:  K Buiting; M Neumann; H J Lüdecke; G Senger; U Claussen; J Antich; E Passarge; B Horsthemke
Journal:  Genomics       Date:  1990-03       Impact factor: 5.736

10.  Prader-Willi syndrome: current understanding of cause and diagnosis.

Authors:  M G Butler
Journal:  Am J Med Genet       Date:  1990-03
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  14 in total

1.  Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

Authors:  B Horsthemke; A Maat-Kievit; E Sleegers; A van den Ouweland; K Buiting; C Lich; P Mollevanger; G Beverstock; G Gillessen-Kaesbach; G Schwanitz
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

2.  The mechanisms involved in formation of deletions and duplications of 15q11-q13.

Authors:  W P Robinson; F Dutly; R D Nicholls; F Bernasconi; M Peñaherrera; R C Michaelis; D Abeliovich; A A Schinzel
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

3.  Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification.

Authors:  Shruthi Mohan; Vettriselvi Venkatesan; Solomon Fd Paul; Teena Koshy; Venkatachalam Perumal
Journal:  J Genet       Date:  2016-06       Impact factor: 1.166

4.  Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.

Authors:  D K Johnson; L J Stubbs; C T Culiat; C S Montgomery; L B Russell; E M Rinchik
Journal:  Genetics       Date:  1995-12       Impact factor: 4.562

5.  Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.

Authors:  S L Christian; N K Bhatt; S A Martin; J S Sutcliffe; T Kubota; B Huang; A Mutirangura; A C Chinault; A L Beaudet; D H Ledbetter
Journal:  Genome Res       Date:  1998-02       Impact factor: 9.043

6.  Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

Authors:  S L Christian; W P Robinson; B Huang; A Mutirangura; M R Line; M Nakao; U Surti; A Chakravarti; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

7.  DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

Authors:  A M van den Ouweland; M N van der Est; E Wesby-van Swaay; T S Tijmensen; F J Los; J O Van Hemel; R C Hennekam; H J Meijers-Heijboer; M F Niermeijer; D J Halley
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

8.  Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.

Authors:  R D Nicholls; W Gottlieb; L B Russell; M Davda; B Horsthemke; E M Rinchik
Journal:  Proc Natl Acad Sci U S A       Date:  1993-03-01       Impact factor: 11.205

9.  A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.

Authors:  A L Lehman; Y Nakatsu; A Ching; R T Bronson; R J Oakey; N Keiper-Hrynko; J N Finger; D Durham-Pierre; D B Horton; J M Newton; M F Lyon; M H Brilliant
Journal:  Proc Natl Acad Sci U S A       Date:  1998-08-04       Impact factor: 11.205

10.  Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

Authors:  B Dittrich; W P Robinson; H Knoblauch; K Buiting; K Schmidt; G Gillessen-Kaesbach; B Horsthemke
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132
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