Open Access Research article

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

Johanna Aigner1234, Sergi Villatoro1234, Raquel Rabionet1234, Jaume Roquer56, Jordi Jiménez-Conde56, Eulàlia Martí1234 and Xavier Estivill1234*

Author Affiliations

1 Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), Barcelona 08003, Spain

2 Universitat Pompeu Fabra (UPF), Barcelona 08003, Spain

3 Centro de Investigación Biomédica en Red en Epidemiología y Salud Pública (CIBERESP), Barcelona 08003, Spain

4 Hospital del Mar Medical Research Institute (IMIM), Barcelona 08003, Spain

5 Neurology Department, Neuvovascular Research Group, Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Barcelona 08003, Spain

6 Universitat Autònoma de Barcelona (UAB), Barcelona 08003, Spain

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BMC Genetics 2013, 14:61  doi:10.1186/1471-2156-14-61

Published: 6 July 2013

Additional files

Additional file 1 Figure S1:

Protein alignment of BTNL8 and BTNL3. BTNL8 and BTNL3 share 68.5% similarity in their amino-acid sequences. Segmental duplication, where cross-over occurred, is highlighted in yellow. Table S1. Individual genotyping HapMap. Table S2. Individual genotyping CEPH-HGDP. Table S3. Frequency of deletion by continental groups. Table S4. CEPH-HGDP genotype frequencies by geographic location. Table S5. Sequences of MLPA probes. Table S6. Sequences of oligonucleotides.

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