A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13

Michael J. Francis; Karen E. Morrison; Louise Campbell; Prabhjit K. Grewal; Zóe Christodoulou; Rachael J. Daniels; Anthony P. Monaco; Anne-Marie Frischauf; John McPherson; John Wasmuth; Kay E. Davies

doi:10.1093/hmg/2.8.1161

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13

Michael J. Francis, Karen E. Morrison, Louise Campbell, Prabhjit K. Grewal, Zóe Christodoulou, Rachael J. Daniels, Anthony P. Monaco, Anne-Marie Frischauf, John McPherson, John Wasmuth, Kay E. Davies

School of Medicine, Dentistry and Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

79 Citations (Scopus)

Abstract

We have constructed a contig of non-chimaeric yeast artificial chromosomes (YACs) across the candidate region for childhood autosomal recessive spinal muscular atrophy (SMA) In 5q13. A novel microsatellite reduces the candidate region to approximately 400kb of DNA distal to D5S435. The candidate region contains blocks of chromosome 5 specific repeats which have copies on 5p as well as elsewhere on 5q. Restriction mapping of the YACs reveals at least one CpG island In the SMA gene region. The YAC maps indicate that the contig contains minimal rearrangements or deletions. The data show the value of screening several YAC libraries simultaneously in order to construct a set of overlapping sequences suitable for candidate gene searches and direct genomic sequencing.

Original language	English
Pages (from-to)	1161-1167
Number of pages	7
Journal	Human Molecular Genetics
Volume	2
Issue number	8
DOIs	https://doi.org/10.1093/hmg/2.8.1161
Publication status	Published - 1993

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title = "A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13",

abstract = "We have constructed a contig of non-chimaeric yeast artificial chromosomes (YACs) across the candidate region for childhood autosomal recessive spinal muscular atrophy (SMA) In 5q13. A novel microsatellite reduces the candidate region to approximately 400kb of DNA distal to D5S435. The candidate region contains blocks of chromosome 5 specific repeats which have copies on 5p as well as elsewhere on 5q. Restriction mapping of the YACs reveals at least one CpG island In the SMA gene region. The YAC maps indicate that the contig contains minimal rearrangements or deletions. The data show the value of screening several YAC libraries simultaneously in order to construct a set of overlapping sequences suitable for candidate gene searches and direct genomic sequencing.",

author = "Francis, {Michael J.} and Morrison, {Karen E.} and Louise Campbell and Grewal, {Prabhjit K.} and Z{\'o}e Christodoulou and Daniels, {Rachael J.} and Monaco, {Anthony P.} and Anne-Marie Frischauf and John McPherson and John Wasmuth and Davies, {Kay E.}",

year = "1993",

doi = "10.1093/hmg/2.8.1161",

language = "English",

volume = "2",

pages = "1161--1167",

journal = "Human Molecular Genetics",

issn = "0964-6906",

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TY - JOUR

T1 - A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13

AU - Francis, Michael J.

AU - Morrison, Karen E.

AU - Campbell, Louise

AU - Grewal, Prabhjit K.

AU - Christodoulou, Zóe

AU - Daniels, Rachael J.

AU - Monaco, Anthony P.

AU - Frischauf, Anne-Marie

AU - McPherson, John

AU - Wasmuth, John

AU - Davies, Kay E.

PY - 1993

Y1 - 1993

N2 - We have constructed a contig of non-chimaeric yeast artificial chromosomes (YACs) across the candidate region for childhood autosomal recessive spinal muscular atrophy (SMA) In 5q13. A novel microsatellite reduces the candidate region to approximately 400kb of DNA distal to D5S435. The candidate region contains blocks of chromosome 5 specific repeats which have copies on 5p as well as elsewhere on 5q. Restriction mapping of the YACs reveals at least one CpG island In the SMA gene region. The YAC maps indicate that the contig contains minimal rearrangements or deletions. The data show the value of screening several YAC libraries simultaneously in order to construct a set of overlapping sequences suitable for candidate gene searches and direct genomic sequencing.

AB - We have constructed a contig of non-chimaeric yeast artificial chromosomes (YACs) across the candidate region for childhood autosomal recessive spinal muscular atrophy (SMA) In 5q13. A novel microsatellite reduces the candidate region to approximately 400kb of DNA distal to D5S435. The candidate region contains blocks of chromosome 5 specific repeats which have copies on 5p as well as elsewhere on 5q. Restriction mapping of the YACs reveals at least one CpG island In the SMA gene region. The YAC maps indicate that the contig contains minimal rearrangements or deletions. The data show the value of screening several YAC libraries simultaneously in order to construct a set of overlapping sequences suitable for candidate gene searches and direct genomic sequencing.

U2 - 10.1093/hmg/2.8.1161

DO - 10.1093/hmg/2.8.1161

M3 - Article

SN - 0964-6906

VL - 2

SP - 1161

EP - 1167

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 8

ER -

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13

Abstract

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