Restriction sites containing CpG show a higher frequency of polymorphism in human DNA.

Abstract:

:Unique loci in the human genome were examined with restriction enzymes in order to detect restriction fragment length polymorphisms (RFLPs). Of 31 arbitrary loci, nine were detectably polymorphic, reflecting ten polymorphic restriction sites. Nine of the ten polymorphic sites were revealed with two restriction enzymes, Msp I and Taq I, whose recognition sequences have in common the dimer sequence CpG. The cytosines in the CpG sequence are known to be frequently methylated in mammals, and the occurrence of significant variation in Msp I and Taq I sites supports the view that methylated cytosine residues are hotspots for mutation in mammalian DNA.

journal_name

Cell

journal_title

Cell

authors

Barker D,Schafer M,White R

doi

10.1016/0092-8674(84)90081-3

subject

Has Abstract

pub_date

1984-01-01 00:00:00

pages

131-8

issue

1

eissn

0092-8674

issn

1097-4172

pii

0092-8674(84)90081-3

journal_volume

36

pub_type

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