7
Status report on gap closure of the human chromosome 5 BAC map Authentication of C5 BAC maps Map and sequence status Gap status and steps used to close gaps Status of the centromere and telomeres C5 specific duplications Jan-Fang Cheng Joint Genome Institute May 24, 2001

Status report on gap closure of the human chromosome 5 BAC map Authentication of C5 BAC maps Map and sequence status Gap status and steps used to close

Embed Size (px)

Citation preview

Status report on gap closure of the human chromosome 5 BAC map

• Authentication of C5 BAC maps

• Map and sequence status

• Gap status and steps used to close gaps

• Status of the centromere and telomeres

• C5 specific duplications

Jan-Fang ChengJoint Genome Institute

May 24, 2001

14.727.383.608.898.921.804.794.774.806.776.826.848.118.138.134.024.052.102.102.112.102.141.198.188.138.138.038.158.1811.4711.5112.5011.6011.3311.276.496.066.066.036.056.046.096.081.111.111.101.111.111.111.106.776.876.896.866.846.816.8011.3611.4011.4411.4911.3311.2711.452.056.095.956.035.945.976.025.976.010.820.830.830.840.850.850.850.834.034.044.054.024.104.104.024.1013.1413.2013.1113.2013.1113.2113.021.583.303.313.293.313.293.293.353.333.3210.3010.3510.2810.3410.2810.2510.6610.3410.505.325.315.305.305.285.275.405.375.399.769.749.729.679.189.939.849.904.122.492.492.482.492.482.482.482.477.507.547.477.557.717.667.657.607.507.547.477.387.467.537.467.391.681.641.641.631.621.641.651.616.146.136.126.136.186.146.226.156.73 4.164.134.164.194.234.196.481.962.001.981.971.961.591.601.611.601.581.61_ 1.371.371.36_ 1.381.191.201.201.22_ 1.202.362.382.382.362.362.358.176.506.676.596.636.586.346.584.604.674.634.654.614.634.631.831.831.851.831.831.841.837.437.647.667.467.557.657.641.151.181.181.18_ 1.171.195.946.146.226.146.116.126.175.707.977.797.847.787.987.965.765.775.785.725.715.735.828.418.278.328.207.988.248.321.181.071.08_ _ _ 1.064.394.374.384.324.364.364.323.483.453.463.493.473.483.463.2013.4614.9614.9614.5214.9214.8514.4514.5410.4510.3910.2210.3410.2810.1810.244.324.344.324.324.324.324.289.683.953.963.993.963.923.913.933.932.502.502.532.542.492.532.542.5520.6221.0515.1715.7015.8215.2615.1915.242.492.482.492.492.482.491.941.971.961.941.951.955.895.915.885.865.895.897.3018.3716.5316.4416.5616.6716.7216.55_ _ 1.501.501.54_8.928.968.728.778.758.69_ _ 1.011.011.002.862.852.842.842.8410.054.164.274.284.254.264.213.593.593.603.603.603.602.212.192.192.192.182.194.164.129.494.084.094.105.729.949.11 9.609.729.849.5510.441.59 1.541.511.541.551.553.64 3.603.583.613.613.628.432.46 4.814.814.844.844.858.276.421.726.356.386.381.548.098.168.398.206.389.919.749.659.809.6810.0910.777.389.9625.3324.0623.8723.980.8624.1523.5923.960.860.870.870.871.070.860.860.861.071.051.061.0723.601.061.071.0623.564.2621.9621.8022.3121.9522.0021.9221.9321.6621.817.427.377.417.407.417.417.377.387.387.337.423.403.393.403.373.393.393.383.353.363.374.124.134.154.134.144.154.134.114.144.125.485.475.505.375.475.475.425.325.465.4116.2916.2916.4516.3516.3516.3516.3916.1616.3916.3814.342.592.602.602.592.592.582.592.572.592.592.574.274.591.231.231.241.221.231.221.231.221.221.221.221.231.221.221.221.221.221.221.221.221.221.221.221.221.221.231.221.225.485.505.505.485.475.475.425.455.435.415.515.405.455.522.353.632.352.562.352.342.342.332.342.342.342.337.358.568.35 8.488.458.648.528.538.718.368.598.673.28 3.283.273.273.263.263.273.263.253.283.77 3.773.763.773.763.773.773.763.773.785.85 5.425.875.845.825.825.805.825.705.881.67 1.671.661.671.671.661.671.671.671.822.8811.53 11.5311.5211.5411.5311.6811.5511.5211.4911.8511.755.44 3.715.495.438.445.555.405.485.385.575.552.69 2.562.692.692.702.682.682.702.698.77 8.978.8710.228.768.919.009.029.665.58 5.465.555.355.555.535.555.651.56 2.582.582.602.602.602.602.616.798.808.618.448.668.758.678.578.5817.4913.19 13.1713.2013.2613.4213.873.52 7.863.523.533.533.534.65 4.664.654.644.656.15 6.176.156.226.201.60 1.591.591.591.596.39 6.408.506.426.402.22 2.222.222.2310.44 10.5010.4910.5111.68 18.1312.0611.9612.347.93 12.7712.5512.5812.7310.448.1012.8218.2618.4319.6120.0220.2220.4220.1212.8212.7712.3112.5813.5013.1013.3413.1212.822.022.022.032.042.032.042.032.034.464.454.454.464.524.744.454.4521.3321.3417.7217.8918.0718.2517.9517.7217.0517.1817.1417.5417.0117.2713.0713.5014.1214.0614.0714.3411.6011.3724.6853.6952.2454.0252.5652.6854.2248.186.89_ _ 1.151.12_ 1.12_ _1.371.381.391.372.651.361.37_1.951.961.951.951.931.951.831.821.831.831.834.684.684.674.767.9713.3113.3113.262.192.212.1911.0010.8910.876.9611.7311.5011.3811.1017.1116.7216.7017.0820.2019.6719.7218.2520.8710.346.456.406.516.679.506.506.516.7214.0514.2914.2810.0913.182.172.162.182.182.152.682.722.702.692.682.552.352.372.372.372.322.354.664.784.814.804.784.822.872.892.892.902.872.875.445.495.465.415.465.473.553.553.533.553.533.542.422.462.442.442.412.451.081.051.061.051.072.182.192.172.162.179.169.159.129.099.1616.2116.1916.176.4416.3913.5711.8311.7511.8411.875.525.465.455.442.442.442.442.444.314.304.314.3211.0614.9922.271.2126.33

Authentication of C5 BAC contigs

• Restriction fragment overlaps

• FISH data

• UniSTS matches

• BAC end matches

• FPC map

• Sequence overlaps

C5 map and sequence status

• Size of chromosome 5: ~200 Mb

• Coverage of restriction mapped clones: 184,306 Kb

• Number of JGI committed clones: 1989

• Coverage of committed clones: 172,083 Kb

• Size of JGI sequenced clones: 141,027 Kb– Marked clones: 1,912 Kb– Drafted clones: 77,356 Kb– Finished clones: 61,759 Kb

• Feb. 10 release of the Golden Path: 165 Mb of sequence and 35 Mb of gap

Gap status and steps used to close gaps

Restriction map + FISH

STS + Restriction map + FISH

(STS + Restriction map + FISH) n

Type 3: Gaps with no bridging clones

11

Celera Scaffold

22

Type 2: Gaps with FPC bridging clonesFPC

How many

95

Map status of C5 centromere and telomeres

RP11-811I15

? Kb

927 Kb

BAC

BACYAC

RP1-9H3

CTD-2276O24

RP11-236F16

400 Kb

600 Kb

RP11-324K20

120 Kb

8.26 Mb

YAC

BAC

q

p

Mapping of tandemly duplicated gene:Protocadherin gene cluster on 5q31

Wu et al., (2001) Genome Research 11: 389-404

C5 specific duplications

q

pRP11-374A4

RP11-96B3

NAIPSMN

SMNNAIP

500 Kb

500 Kb

597 Kb (6 BACs)

RP11-360I2

15 Mb

RP11-3M7CTD-2021M10

RP11-356O21

RP11-430F16

??