Anthology of Human Repetitive DNA
293
Alu
Translocation
t(X;18)
Synovial sarcoma
Alu
Deletion
NM
005502
9q31.1
ATP-binding cassette
transporter,
subfamily A
member 1
ABCA1
Tangier disease
Alu
Deletion
NM
000520
15q24.1
Hexosaminidase A,
alpha polypeptide
HEXA
Tay Sachs disease
Alu
Deletion
del(16)(p)
Alpha-globin gene
cluster
Thalassemia, alpha
Alu
Deletion
del(11)(p)
Beta-globin gene
cluster
Thalassemia, delta,
gamma
Alu
Deletion
NM
000488
1q25.1
Serine (or cysteine)
proteinase inhibitor,
clade C
(antithrombin)
SERPINC1
Thrombophilia
Alu
Deletion
NM
000548
16p13.3
Tuberous sclerosis 2
TSC2
Tuberous sclerosis
Alu
Deletion
NM
025237
17q21.31
Sclerosteosis
SOST
van Buchem disease
Alu [2]
Deletion
NM
000552
12p13.31
von Willebrand factor A
VWF
von Willebrand disease
Alu
Deletion
NM
000377
Xp11.23
Wiskott-Aldrich
syndrome protein
WAS
Wiskott-Aldrich syndrome
Alu
Translocation
DXYS5 locus
XX maleness
Notes
: The table represents a signi±cant update of previously published reviews. Each row correspondsto one or several rearrangements affecting the
same gene. [1]: There are dozens of cases of Alu involvement in recombination leading to various formsof both acute and chronic leukemias, and related
carcinomas. The disorders known to be, at least partially, caused by Alu recombinations are: t(8;16)(p11;p13), t(11;18)(q21;q21), t(2;8), t(14;19), t(9;11),
t(14;18), t(11;19)(q23;p13.3), t(10;16)(q22;p13), t(4;11), Philadelphia translocation t(9;22) and variants, 7q22-q34 inversion, and dup(11)(q23). [2]:
Nonhomologous Alu recombination. [3]: Nonhomologous recombination between Alu and L1 elements. [4]: Nonhomologous recombination induced by
a polyA tail of an Alu element. [5]: Homologous recombination between two HERV15 elements produced duplication of a 780-kb segment on
chromosome Y harboring two genes DBY and USP9Y. [6]: Speci±c deletion of a single Alu monomer in an intronic Alu element, probably by
nonhomologous recombination.
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