Promoters and transcription factors - Human Gene Evolution - page 238

Table 5.1. Repetitive sequence insertions in mammalian genes that have altered the expres-
sion of the gene

Gene Insertion Comments Reference

KRT18 Alu Alu sequence contains Thorey et al . (1993);

retinoic acid receptor Vansant and Reynolds (1995)

binding site

CD8A Alu Alu sequence carries two Hambor et al . (1993)

Lyf-1, one bHLH and one
GATA-3 binding sites

FCER1G Alu Alu sequence carries Brini et al . (1993)

positive and negative
elements

PTH Alu Alu sequence carries McHaffie and Ralston (1995)

negative calcium
response element

BRCA1 Alu Alu sequence serves Norris et al . (1995)

as estrogen receptor-
dependent enhancer

MPO Alu Alu sequence contains Piedrafita et al . (1996)

composite SP1-thyroid
hormone-retinoic acid
response element

WT1 Alu Silencer in intron 3, Hewitt et al . (1995)

12 kb from promoter

F9 LINE Located at position - 800 Kurachi et al . (1997)

LPA LINE Located ~20 kb Yang et al . (1998)

upstream of transcriptional
initiation site; contains
enhancer element

AMY1A, AMY1B, Endogenous Androgen response Ting et al . (1992)

AMY1C retrovirus element

ZNF80 Endogenous ERV9 element Di Cristofano et al .

retrovirus (1995a); (1995b)

PLA2L Endogenous HERV-H element Kowalski et al . (1996); (1997)

retrovirus

PTN Endogenous HERV element Schulte and Wellstein (1998)

retrovirus

HLA-DRB6 Endogenous MMTV-like sequence Mayer et al . (1993)

retrovirus

Sex-linked C4 Endogenous ERV element contains Stavenhagen and Robins (1988);

protein, murine retrovirus androgen-responsive Adler et al . (1992, 1993);

sites Robins et al . (1994)

Sequences are human unless otherwise specified.