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Table 1 Fibroblast strains

From: Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome

cell strain

micro-array data set

anatomic origin embryonal anlagen

external genitalia AIS-stage

age at biopsy years; months

selected functional data (androgen binding, AR-genotype, specific remarks)

F-33

1

foreskin genital tubercle

normal fertile male

51;11

Kd 0.08 nM, Bmax 26 fmol/mg protein

F-40

1, 2

foreskin genital tubercle

normal male

7;11

Kd 0.09 nM, Bmax 32 fmol/mg protein

F-52

1

foreskin genital tubercle

normal male

0;3

Kd 0.06 nM, Bmax 35 fmol/mg protein

F-56

1, 2

foreskin genital tubercle

normal fertile male

42;10

Kd 0.07 nM, Bmax 13 fmol/mg protein

F-57

1

foreskin genital tubercle

normal male

5;11

Kd 0.05 nM, Bmax 24 fmol/mg protein

F-58

1

foreskin genital tubercle

normal male

5;11

Kd 0.10 nM, Bmax 31 fmol/mg protein

F-59

1, 2

foreskin genital tubercle

normal male

0;8

Kd 0.07 nM, Bmax 40 fmol/mg protein

F-60

1

foreskin genital tubercle

normal male

5;4

Kd 0.05 nM, Bmax 20 fmol/mg protein

F-62

1

foreskin genital tubercle

normal male

2;0

Kd 0.08 nM, Bmax 86 fmol/mg protein

ARD339

1

foreskin genital tubercle

ambiguous (AIS3)

1;4

Glu798Gln

ARD082

1

foreskin genital tubercle

ambiguous (AIS3)

10;11

Asp604Tyr

ARD183

1

foreskin genital tubercle

ambiguous (AIS3)

5;1

Asp756Ser

ARD515

2

foreskin genital tubercle

ambiguous (AIS3)

0;6

homozygous missense mutation Arg227Gln in SRD5A2 gene leading to 5α reductase type II deficiency

S-1

2

scrotum labioscrotal swellings

normal male

30;0

no functional data

S-4

2

scrotum labioscrotal swellings

normal male

1;3

Kd 0.12 nM, Bmax 44 fmol/mg protein

S-5

2

scrotum labioscrotal swellings

normal male

1;7

Kd 0.09 nM, Bmax 28 fmol/mg protein

S-8

2

scrotum labioscrotal swellings

normal male

31;0

no functional data

S-9

2

scrotum labioscrotal swellings

normal male

34;0

Kd 0.08 nM, Bmax 55 fmol/mg protein

S-11

2

scrotum labioscrotal swellings

normal male

32;2

Kd 0.08 nM, Bmax 26 fmol/mg protein

S-12

2

scrotum labioscrotal swellings

normal male

9;2

Kd 0.07 nM, Bmax 37.09 fmol/mg protein

ARD527

1, 2, 3

scrotum labioscrotal swellings

predominantly male (AIS2)

1;6

Leu712Phe, Kd 0.21 nM; Bmax 38 fmol/mg protein

ARD446

1

scrotum labioscrotal swellings

predominantly male (AIS2)

7;8

silent mutation GGG>GGA in codon 795 of the AR-gene Kd 0.07 nM, Bmax 26 fmol/mg protein

ARD407

1, 2

scrotum labioscrotal swellings

predominantly male (AIS2)

1:0

polyglycin repeat of the N-terminus reduced to 10 repeats plus Ala645Asp, Kd 0.09 nM; Bmax 36 fmol/mg protein

ARD306

1, 2

scrotum labioscrotal swellings

predominantly male (AIS2)

7;8

Arg855His; Kd 0.97 nM, Bmax 20 fmol/mg protein

ARD774

1

scrotum labioscrotal swellings

predominantly male (AIS2)

0;11

Ala596Thr; Kd 0.08 nM; Bmax 43 fmol/mg protein

ARD208

1

labia majora/scrotum labioscrotal swellings

ambiguous (AIS3)

1;1

Val746Met; Kd 0.16 nM; Bmax 3 fmol/mg protein

ARD534

1

labia majora/scrotum labioscrotal swellings

ambiguous (AIS3)

2;4

Arg608Lys

ARD084

1

labia majora/scrotum labioscrotal swellings

ambiguous (AIS3)

0;8

no mutation in the whole coding region of the AR gene, reduced AR-mRNA, reduced AR-protein and reduced ligand binding (Kd 0.05 nM; Bmax 6 fmol/mg protein)

ARD001

1

labia majora/scrotum labioscrotal swellings

ambiguous (AIS3)

0;9

exonic splice site mutation AGC>AGT in codon 888 leading to aberrant splicing

ARD380

1

labia majora/scrotum labioscrotal swellings

ambiguous (AIS3)

13;1

Arg615Pro, post zygotic mutation leading to somatic mosaicism

ARD377

1

labia majora/scrotum labioscrotal swellings

predominantly female (AIS4)

1;2

Ile841Ser, (Kd 0.55 nM; Bmax 17 fmol/mg protein),

ARD659

1

labia majora labioscrotal swellings

Predominantly female (AIS4)

3;10

Ala870Gly

ARD1097

1, 2

labia majora labioscrotal swellings

normal female (CAIS)

1;3

Pro390Ser + Arg855Gly, negative androgen binding

ARD411

1, 2

labia majora labioscrotal swellings

normal female (CAIS)

0;4

Arg855Cys, negative androgen binding

ARD1144

3

labia majora labioscrotal swellings

normal female (CAIS)

4;3

pathological androgen binding, Kd 1.59 nM, Bmax 14 fmol/mg protein, no mutation detected

GS641-7/ARD291

3

labia majora labioscrotal swellings

normal female (CAIS)

18;4

Phe794Ser, negative androgen binding

ARD682

1, 2

labia majora labioscrotal swellings

normal female (CAIS)

14;10

Gln59stop, negative androgen binding, no AR-protein in Western immunoblot

ARD402

1, 2

labia majora labioscrotal swellings

normal female (CAIS)

1;0

2 base pair deletion in exon 1, frameshift, premature stop codon, negative androgen binding, very low AR-mRNA transcription, no AR-protein in Western immunoblot

ARD075

1, 2

labia majora labioscrotal swellings

normal female (CAIS)

12;3

Arg774Cys, post zygotic mutation leading to somatic mosaicism, Kd1 0.03 nM; Bmax1 2 fmol/mg protein (wilde type AR); Kd2 8.5 nM; Bmax2 29 fmol/mg protein (mutant AR)

ARD465

1

labia majora labioscrotal swellings

normal female (CAIS)

5;5

Glu287stop, low expression of wild-type AR (Kd 0.11 nM; Bmax 4 fmol/mg protein), post-zygotic mutation (somatic mosaicism likely)

L-1

3

labia minora urethral folds

normal female

37;10

normal female (46, XX)

L-2

3

labia minora urethral folds

normal female

23;0

female (46 XX), classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency, external genital virilization of Prader 3 corresponding phenotypically to "AIS3"

L-3

3

labia majora labioscrotal swellings

normal female

40;4

normal female (46, XX)

ARD709

1

testis gonad

ambiguous (AIS3)

6;5

Met775Ile

ARD291

1

testis gonad

normal female (CAIS)

18;4

Phe794Ser, negative androgen binding

ARD531

1

testis gonad

normal female (CAIS)

35,2

Ala765Thr, negative androgen binding

ARD557

1

testis gonad

normal female (CAIS)

6;6

donor splice site exon 2/intron 2, negative androgen binding

ARD842

1

testis gonad

normal female (CAIS)

38;0

26 bp deletion exon 1 (141–150), frameshift, premature stop codon, negative androgen binding

ARD1004

1

testis gonad

normal female (CAIS)

17;4

Val866Met, negative androgen binding

N-ST4

1

abdominal skin

normal male

46;0

no functional data

N-LS12

1

forearm skin

normal male

36;0

no functional data

  1. Fibroblast strains; microarray dataset in whichh they have been analysed (1 – 3); ARD or GS, patient strain-ID; F, normal male foreskin fibroblasts; S, normal male scrotal fibroblasts. L-1-3 represent the only samples with a 46, XX karyotype. N-ST4 and N-LS12 are of extragenital origin. ARD515 was derived from a 46, XY male with ambiguous genitalia due to a 5α reductase type II defect rather than AIS. Normal ranges for androgen (methyltrienolone) binding: Bmax (binding capacity): 13–116 fmol/mg protein; Kd (dissociation constant): 0.03–0.13 nM.