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

Open Data