Table 14

Drosophila tubule as a model for human genetic disease

Gene
Affymetrix signal
Enrichment
Blast probability
OMIM reference
Human disease
Available fly stocks

CG10226
290 ± 25
28.3
1.00E-184
171050
Colchicine resistance

CG7402
99 ± 4
26.9
2.00E-40
253000
Mucopolysaccharidosis IVA

Ir
1,302 ± 112
14.2
1.00E-76
600359
Bartter syndrome, antenatal, 601678

ry
655 ± 44
13.0
1.00E-184
607633
Xanthinuria, type I, 278300

Ptx1
183 ± 8
12.7
6.00E-38
602669
Anterior segment mesenchymal dysgenesis and cataract, 107250

Fmo-1
131 ± 11
12.0
9.00E-27
136132
[Fish-odor syndrome], 602079

CG4484
504 ± 50
12.0
1.00E-49
606202
Oculocutaneous albinism, type IV, 606574

DS00004.14
759 ± 54
10.6
1.00E-123
603470
Citrullinemia, 215700

CG9455
355 ± 40
9.0
1.00E-42
107400
Emphysema; emphysema-cirrhosis, hemorrhagic diathesis due to

CG5582
825 ± 49
8.5
1.00E-69
607042
Ceroid-lipofuscinosis, neuronal-3, juvenile, 204200

Cyp4d2
1,008 ± 70
8.3
1.00E-27
107910
Gynecomastia, familial, due to increased aromatase activity

CG7433
1,364 ± 50
7.4
1.00E-153
137150
GABA-transaminase deficiency

CG1140
894 ± 26
7.3
1.00E-176
245050
Ketoacidosis due to SCOT deficiency

CG9547
860 ± 34
7.0
1.00E-164
231670
Glutaricaciduria, type I

PhKgamma
2,665 ± 152
6.9
1.00E-111
172471
Glycogenosis, hepatic, autosomal

CG4623
382 ± 37
6.8
4.00E-28
606598
Charcot-Marie-Tooth disease, mixed axonal and demyelinating
l(3)j7B3
CG12370
203 ± 17
6.7
5.00E-40
138033


CG15556
221 ± 12
6.4
6.00E-12
602851
Convulsions, familial febrile, 4, 604352

KCNQ
101 ± 0
6.4
1.00E-108
602235
Epilepsy, benign, neonatal, type 1, 121200; myokymia with neonatal

CG17119
852 ± 28
5.7
6.00E-74
606272
Cystinosis, atypical nephropathic; cystinosis, late-onset juvenile

CG7408
168 ± 6
5.6
3.00E-27
300180
Chondrodysplasia punctata, X-linked recessive, 302950

Spat
724 ± 39
5.1
2.00E-88
604285
Hyperoxaluria, primary, type 1, 259900
EP(x)1365
CG8743
1,001 ± 44
4.9
1.00E-100
605248
Mucolipidosis IV, 252650

CG14593
59 ± 13
4.9
2.00E-33
131244
ABCD syndrome, 600501; Hirschsprung disease-2, 600155

CG1673
911 ± 142
4.8
1.00E-100
113530
Hypervalinemia or hyperleucine-isoleucinemia (?)

Ndae1
531 ± 34
4.7
1.00E-184
603345
Renal tubular acidosis, proximal, with ocular abnormalities, 604278

CG7834
3441 ± 106
4.3
8.00E-80
130410
Glutaricaciduria, type IIB, 231680
EP(2)2553, l(2)k00405
Pvr
294 ± 26
4.2
6.00E-69
164770
Myeloid malignancy, predisposition to

CG12030
887 ± 51
4.1
1.00E-124
606953
Galactose epimerase deficiency, 230350

Mdr49
239 ± 25
4.0
1.00E-184
171060
Cholestasis, familial intrahepatic, of pregnancy, 147480
l(2)k05224
CG4685
563 ± 19
4.0
1.00E-129
271980
Succinic semialdehyde dehydrogenase deficiency
EP(2)2545, l(2)k08713
CG12338
774 ± 16
3.9
4.00E-40
124050


CG12582
183 ± 14
3.8
1.00E-142
248510
Mannosidosis, beta-
l(2)k10108
Reg-3
463 ± 24
3.8
1.00E-184
274270
Thymine-uraciluria

Cyp12c1
73 ± 5
3.8
2.00E-34
124080
Aldosterone to renin ratio raised; hypoaldosteronism, congenital,

Fur1
724 ± 29
3.7
1.00E-163
162150
Obesity with impaired prohormone processing, 600955

Cyp9c1
258 ± 14
3.7
7.00E-53
274180
Thromboxane synthase deficiency
l(3)05545
Drip
318 ± 16
3.6
1.00E-37
154050
Cataract, polymorphic and lamellar, 604219

CG8654
274 ± 29
3.6
2.00E-62
607096
Hypouricemia, renal, 220150

Cyp9f2
1,700 ± 60
3.6
1.00E-69
124010
CYP3A4 promoter polymorphism; CYP3A4-V

ERR
239 ± 21
3.5
5.00E-29
313700
Androgen insensitivity, 300068; breast cancer, male
EP(3)3340
CG3603
94 ± 7
3.4
5.00E-20
222745
DECR deficiency (2) (?)

CG9232
877 ± 20
3.4
1.00E-118
606999
Galactosemia, 230400

CG8417
502 ± 31
3.2
3.00E-71
154550
Carbohydrate-deficient glycoprotein syndrome, type Ib, 602579
EP(2)0844, EP(2)2192, EP(2)2358, l(2)05428, l(2)k06503
CG4663
439 ± 14
3.2
2.00E-29
601789
Adrenoleukodystrophy, neonatal, 202370; Zellweger syndrome, 214100

Cat
4,316 ± 88
3.2
1.00E-184
115500
Acatalasemia

Prominin-like
308 ± 24
3.0
1.00E-20
604365
Retinal degeneration, autosomal recessive, prominin-related
EP(2)0740

Genes that are abundant (Affymetrix signal > 50) and enriched (> 3 times) in tubule, and which are also closely similar (Blast probablility < 10-20) to genes mutated in human genetic diseases, as described in the Homophila database [99]. OMIM reference refers to entries in the Online Mendelian Inheritance in Man database [100].

Wang et al. Genome Biology 2004 5:R69   doi:10.1186/gb-2004-5-9-r69