<p><span style="font-size: large;">&nbsp;Original BMC Genomics site:&nbsp;</span><a href="http://www.biomedcentral.com/1471-2164/14/363"><span style="font-size: large;">http://www.biomedcentral.com/1471-2164/14/363</span></a></p>

<p><section b style="paddingfont-family: 0px; margin: 0pxinherit; font-familystyle: Verdana, Arial, Helvetica, sans-serifinherit; font-size: 11.199999809265137px; line-height: 12.800000190734863px;"><span style="font-size: medium;">Background</span></b></p><p>&nbsp;</p>

<p><b><span style="font-size: medium;">Background</span></b></p><p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;"><span style="font-size: medium;">The only known albino gorilla, named&nbsp;<em style="padding: 0px; margin: 0px; border: 0px; outline: 0px; font-family: inherit; vertical-align: baseline;">Snowflake</em>, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. </span></p><p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;"><span style="font-size: medium;">He was diagnosed with non-syndromic oculocutaneous albinism, i.e. white hair, light eyes, pink skin, photophobia and reduced visual acuity. Despite previous efforts to explain the genetic cause, this is still unknown. </span></p><p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;"><span style="font-size: medium;">Here, we study the genetic cause of his albinism and making use of whole genome sequencing data we find a higher inbreeding coefficient compared to other gorillas.</span></p><p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;">&nbsp;</p>

<p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;"><span style="font-size: medium;">We successfully identified the causal genetic variant for&nbsp;<em style="padding: 0px; margin: 0px; border: 0px; outline: 0px; font-family: inherit; vertical-align: baseline;">Snowflake&rsquo;s</em>&nbsp;albinism, a non-synonymous single nucleotide variant located in a transmembrane region of&nbsp;<em style="padding: 0px; margin: 0px; border: 0px; outline: 0px; font-family: inherit; vertical-align: baseline;">SLC45A2</em>. </span></p><p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;"><span style="font-size: medium;">This transporter is known to be involved in oculocutaneous albinism type 4 ([[OCA4]]) in humans. We provide experimental evidence that shows that this amino acid replacement alters the membrane spanning capability of this transmembrane region. Finally, we provide a comprehensive study of genome-wide patterns of autozygogosity revealing that&nbsp;<em style="padding: 0px; margin: 0px; border: 0px; outline: 0px; font-family: inherit; vertical-align: baseline;">Snowflake</em>&rsquo;s parents were related, being this the first report of inbreeding in a wild born Western lowland gorilla.</span></p><p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;">&nbsp;</p>

<p style="padding: 0px; margin: 0px 0px 1em; border: 0px; outline: 0px; font-style: inherit; font-family: inherit; vertical-align: baseline; overflow: visible; clear: both; line-height: 17.600000381469727px;"><span style="font-size: medium;">In this study we demonstrate how the use of whole genome sequencing can be extended to link genotype and phenotype in non-model organisms and it can be a powerful tool in conservation genetics (e.g., inbreeding and genetic diversity) with the expected decrease in sequencing cost.</span></p>

<p><span style="font-size: medium;">Gorilla; [[Albinism]]; Inbreeding; Genome; Conservation</span></p>