Methods of screening and diagnostics using ATP-binding cassette transporter

An isolated nucleic acid sequence selected from the group consisting of SEQ ID NO:

• 1, or a fragment thereof having substantially the same activity.

An isolated nucleic acid sequence selected from the group consisting of SEQ ID NOS:

• 2 or 5, or a fragment thereof having substantially the same activity.

An isolated amino acid sequence selected from the group consisting of SEQ ID NO:

• 3 or 6, or a fragment thereof having substantially the same activity.

An isolated amino acid sequence of FIG. 3, or a fragment thereof having substantially the same activity.

A vector comprising a nucleic acid sequence encoding retina-specific ATP binding cassette transporter.

A vector comprising a nucleic acid sequence selected from the group consisting of SEQ ID NO:

• 1, or a fragment thereof having substantially the same activity.

A vector comprising a nucleic acid sequence selected from the group consisting of SEQ ID NOS:

• 2 or 5, or a fragment thereof having substantially the same activity.

A vector comprising a nucleic acid sequence encoding an amino acid sequence selected from the group consisting of SEQ ID NOS:

• 3 or 6.

A vector comprising a nucleic acid sequence encoding the amino acid sequence of FIG. 3.

A host cell capable of expressing a nucleic acid sequence encoding a retina-specific ATP binding cassette transporter.

A host cell capable of expressing a nucleic acid sequence of SEQ ID NO:

• 1.

A host cell capable of expressing a nucleic acid sequence selected from the group consisting of SEQ ID NOS:

• 2 or 5.

A host cell capable of expressing a nucleic acid seqeunce encoding an amino acid sequence selected from the group consisting of SEQ ID NOS:

• 3 or 6.

A host cell capable of expressing a nucleic acid seqeunce encoding the amino acid sequence of FIG. 3.

A cell culture capable of expressing a retina-specific ATP binding cassette transporter.

A cell culture capable of expressing a nucleic acid sequence of SEQ ID NO:

• 1.

A cell culture capable of expressing a nucleic acid sequence selected from the group consisting of SEQ ID NOS:

• 2 or 5.

A cell culture capable of expressing a nucleic acid sequence encoding an amino acid sequence selected from the group consisting of SEQ ID NOS:

• 3 or 6.

A cell culture capable of expressing a nucleic acid sequence encoding an amino acid sequence selected from the group consisting of SEQ ID NOS:

• 3 or 6.

A protein preparation comprising an amino acid sequence for retina-specific ATP binding cassette transporter.

A protein preparation comprising an amino acid sequence encoded by a sequence of SEQ ID NO:

• 1.

A protein preparation comprising an amino acid sequence encoded by a nucleic acid sequence selected from the group consisting of SEQ ID NOS:

• 2 or 5.

A protein preparation comprising an amino acid sequence selected from the group consisting of SEQ ID NOS:

• 3 or 6.

A protein preparation comprising an amino acid sequence of FIG. 3.

A composition comprising an effective amount of a sequence selected from the group consisting of SEQ ID NOS:

• 2 or 5 or a fragment thereof having substantially similar activity, and a pharmaceutically acceptable carrier.

A composition comprising an effective amount of an antisense sequence to a sequence selected from the group consisting of SEQ ID NOS:

• 2 or 5 or a fragment thereof which fragment has substantially similar activity, and a pharmaceutically acceptable carrier.

A method of screening for an agent that alters retina-specific ATP binding cassette transporter comprising combining purified retina-specific ATP binding cassette transporter and at least one agent suspected of altering retina-specific ATP binding cassette transporter and observing an alteration in said purified retina-specific ATP binding cassette transporter.

A method of screening for an agent that inhibits macular degeneration comprising combining purified retina-specific ATP binding cassette transporter from a patient suspected of having macular degeneration and at least one agent suspected of activating retina-specific ATP binding cassette transporter and observing an activation in said purified retina-specific ATP binding cassette transporter.

A method of screening for an agent that activates macular degeneration comprising combining a purified wild-type retina-specific ATP binding cassette transporter and at least one agent suspected of activating macular degeneration and observing an inhibition in said purified wild-type retina-specific ATP binding cassette transporter.

A transgenic non-human mammal comprising a recombinant sequence encoding a retina-specific ATP binding cassette transporter introduced into said mammal, or an ancestor of said mammal.

A transgenic non-human mammal comprising a suppressed retina-specific ATP binding cassette transporter gene.

A transgenic non-human mammal comprising a recombinant wild-type sequence encoding retina-specific ATP binding cassette transporter.

A diagnostic kit for detecting macular degeneration comprising in one or more containers a pair of primers, wherein one primer within said pair is complementary to a region of the retina-specific ATP binding cassette receptor, a probe specific to the amplified product, and a means for visualizing amplified DNA, and optionally including one or more size markers, and positive and negative controls.

A sequence of having a sequence of SEQ ID NOS:

• 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71, 72, 73, 74, 75, 76, 77, 78, 79, 80, 81, 82, 83, 84, 85, 86, 87, 88, 89, 90, 91, 92, 93, 94, 95, 96, 97, 98, 99, 100, 101, 102, 103, 104, 105, 106, 107, 108, 109, 110, 111, 112, or 113.

A sequence encoding SEQ ID NO:

• 2 having a mutation selected from the group consisting of 0223T→G, 0634C→T, 0746A→G, 1018T→G, 1411G→A, 1569T→G, 1715G→A, 1715G→C, 1804C→T, 1822T→A, 1917C→A, 2453G→A, 2461T→A, 2536G→C, 2588G→C, 2791G→A, 2827C→T, 2894A→G, 3083C→T, 3212C→T, 3215T→C, 3259G→A, 3322C→T, 3364G→A, 3385G→T, 3386G→T, 3602T→G, 3610G→A, 4139C→T, 4195G→A, 4222T→C, 4297G→A, 4316G→A, 4319T→C, 4346G→A, 4462T→C, 4469G→A, 4577C→T, 4594G→A, 5041del15, 5281del9, 5459G→C, 5512C→T, 5527C→T, 5657G→A, 5693G→A, 5882G→A, 5908C→T, 5929G→A, 6079C→T, 6088C→T, 6089G→A, 6112C→T, 6148G→C, 6166A→T, 6229C→T, 6286G→A, 6316C→T, 6391G→A, 6415C→T, 6445C→T, and 6543del36.

A sequence encoding SEQ ID NO:

• 3 having a mutation selected from the group consisting of C75G, R212C, D249G, Y340D, E471K, D523E, R572Q, R572P, R602W, F6081, Y639X, G818E, W821R, D846H, G863A, V931M, R943W, N965S, A1028V, S1071L, V1072A, E1087K, R1108C, E1122K, R1129C, R1129L, L1201R, D1204N, P1380L, E1399K, W1408R, V1433I, G1439D, F1440S, W1449X, C1488R, C1490Y, T1526M, D1532N, VVAIC1681del, PAL1761del, R1820P, H1838Y, R1843W, G1886E, R1898H, G1961E, L1970F, G1977S, L2027F, R2030X, R2030Q, R2038W, V2050L, K2056X, R2077W, E2096K, R2106C, E2131K, R2139W, R2149X, 1181del12, 0664del13, 2884delC, 4232insTATG, 4947delC, 6709delG, 4253+5G→T, 5196+2T→C, 5585+1G→A, 5714+5G→A, 5898+1G→A, and 6005+1G→T.