Abstract:
BACKGROUND:The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. 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. 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. RESULTS:We successfully identified the causal genetic variant for Snowflake's albinism, a non-synonymous single nucleotide variant located in a transmembrane region of SLC45A2. 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 Snowflake's parents were related, being this the first report of inbreeding in a wild born Western lowland gorilla. CONCLUSIONS: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.
journal_name
BMC Genomicsjournal_title
BMC genomicsauthors
Prado-Martinez J,Hernando-Herraez I,Lorente-Galdos B,Dabad M,Ramirez O,Baeza-Delgado C,Morcillo-Suarez C,Alkan C,Hormozdiari F,Raineri E,Estellé J,Fernandez-Callejo M,Valles M,Ritscher L,Schöneberg T,de la Calle-Mustienes Edoi
10.1186/1471-2164-14-363subject
Has Abstractpub_date
2013-05-31 00:00:00pages
363issn
1471-2164pii
1471-2164-14-363journal_volume
14pub_type
杂志文章相关文献
BMC GENOMICS文献大全abstract:BACKGROUND:Essential genes are indispensable for the survival of living entities. They are the cornerstones of synthetic biology, and are potential candidate targets for antimicrobial and vaccine design. DESCRIPTION:Here we describe the Cluster of Essential Genes (CEG) database, which contains clusters of orthologous ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-14-769
更新日期:2013-11-09 00:00:00
abstract:BACKGROUND:It has been shown previously that aminocoumarin antibiotics such as novobiocin lead to immediate downregulation of recA expression and thereby inhibit the SOS response, mutation frequency and recombination capacity in Staphylococcus aureus. Aminocoumarins function by inhibiting the ATPase activity of DNA gyr...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-291
更新日期:2014-04-16 00:00:00
abstract:BACKGROUND:Microarrays have revolutionized breast cancer (BC) research by enabling studies of gene expression on a transcriptome-wide scale. Recently, RNA-Sequencing (RNA-Seq) has emerged as an alternative for precise readouts of the transcriptome. To date, no study has compared the ability of the two technologies to q...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-1008
更新日期:2014-11-21 00:00:00
abstract:BACKGROUND:Identification and classification of highly similar microbial strains is a challenging issue in microbiology, ecology and evolutionary biology. Among various available approaches, gene content analysis is also at the core of microbial taxonomy. However, no threshold has been determined for grouping microorgn...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-016-2991-9
更新日期:2016-08-17 00:00:00
abstract:BACKGROUND:Color polymorphism in the nacre of pteriomorphian bivalves is of great interest for the pearl culture industry. The nacreous layer of the Polynesian black-lipped pearl oyster Pinctada margaritifera exhibits a large array of color variation among individuals including reflections of blue, green, yellow and pi...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-015-1776-x
更新日期:2015-08-01 00:00:00
abstract:BACKGROUND:Species of the family Vibrionaceae are ubiquitous in marine environments. Several of these species are important pathogens of humans and marine species. Evidence indicates that genetic exchange plays an important role in the emergence of new pathogenic strains within this family. Data from the sequenced geno...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-11-369
更新日期:2010-06-10 00:00:00
abstract:BACKGROUND:Bacterial vaginosis (BV) is an ecological disorder of the vaginal microbiota that affects millions of women annually, and is associated with numerous adverse health outcomes including pre-term birth and the acquisition of sexually transmitted infections. However, little is known about the overall structure a...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-11-488
更新日期:2010-09-07 00:00:00
abstract:BACKGROUND:Sexual reproduction of scleractinians has captured the attention of researchers and the general public for decades. Although extensive ecological data has been acquired, underlying molecular and cellular mechanisms remain largely unknown. In this study, to better understand mechanisms underlying gametogenesi...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-020-07113-9
更新日期:2020-10-21 00:00:00
abstract:BACKGROUND:Pfam is a general-purpose database of protein domain alignments and profile Hidden Markov Models (HMMs), which is very popular for the annotation of sequence data produced by genome sequencing projects. Pfam provides models that are often very general in terms of the taxa that they cover and it has previousl...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-8-97
更新日期:2007-04-10 00:00:00
abstract:BACKGROUND:The emergence of epithelia was the foundation of metazoan expansion. Epithelial tissues are a hallmark of metazoans deeply rooted in the evolution of their complex developmental morphogenesis processes. However, studies on the epithelial features of non-bilaterians are still sparse and it remains unclear whe...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-4715-9
更新日期:2018-05-24 00:00:00
abstract:BACKGROUND:Alternative synonymous codons are not used with equal frequencies. In addition, the contexts of codons - neighboring nucleotides and neighboring codons - can have certain patterns. The codon context can influence both translational accuracy and elongation rates. However, it is not known how strong or conserv...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-9-463
更新日期:2008-10-08 00:00:00
abstract:BACKGROUND:Sugarcane (Saccharum L. plant) is an important crop for sugar and bio-energy production around the world. Among sugarcane diseases, smut caused by Sporisorium scitamineum is one of the major fungal diseases causing severe losses to the sugarcane industry. The use of PCR reference genes is essential to the no...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-4854-z
更新日期:2018-06-19 00:00:00
abstract:BACKGROUND:Sugarcane smut is a fungal disease caused by Sporisorium scitamineum. Cultivation of smut-resistant sugarcane varieties is the most effective way to control this disease. The interaction between sugarcane and S. scitamineum is a complex network system. However, to date, there is no report on the identificati...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-5400-8
更新日期:2019-01-18 00:00:00
abstract:BACKGROUND:Atlantic salmon production in Tasmania (Southern Australia) occurs near the upper limits of the species thermal tolerance. Summer water temperatures can average over 19 °C over several weeks and have negative effects on performance and health. Liver tissue exerts important metabolic functions in thermal adap...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-018-4517-0
更新日期:2018-02-12 00:00:00
abstract:BACKGROUND:Gene expression technologies have the ability to generate vast amounts of data, yet there often resides only limited resources for subsequent validation studies. This necessitates the ability to perform sorting and prioritization of the output data. Previously described methodologies have used functional pat...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-5-58
更新日期:2004-08-20 00:00:00
abstract:BACKGROUND:Parasitic wasps constitute one of the largest group of venomous animals. Although some physiological effects of their venoms are well documented, relatively little is known at the molecular level on the protein composition of these secretions. To identify the majority of the venom proteins of the endoparasit...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-11-693
更新日期:2010-12-07 00:00:00
abstract:BACKGROUND:The sacred lotus (Nelumbo nucifera) is widely cultivated in China for its edible rhizomes and seeds. Traditional plant breeding methods have been used to breed cultivars with increased yields and quality of rhizomes and seeds with limited success. Currently, the available genetic maps and molecular markers i...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-016-2781-4
更新日期:2016-06-17 00:00:00
abstract:BACKGROUND:Thymoma is a heterogeneous group of tumors in biology and clinical behavior. Even though thymoma is divided into five subgroups following the World Health Organization classification, the nature of the disease is mixed within the subgroups. RESULTS:We investigated the molecular characteristics of genetic ch...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-8-305
更新日期:2007-09-03 00:00:00
abstract:BACKGROUND:Understanding the genetic basis of adaptive evolution is one of the major goals in evolutionary biology. Recently, it has been revealed that gene copy number variations (GCNVs) constitute significant proportions of genomic diversities within natural populations. However, it has been unclear whether GCNVs are...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-15-735
更新日期:2014-08-29 00:00:00
abstract:BACKGROUND:The Abeta-binding alcohol dehydrogenase/17beta-hydroxysteroid dehydrogenase type 10 (ABAD/HSD10) is an enzyme involved in pivotal metabolic processes and in the mitochondrial dysfunction seen in the Alzheimer's disease. Here we use comparative genomic analyses to study the evolution of the HADH2 gene encodin...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-7-202
更新日期:2006-08-09 00:00:00
abstract:BACKGROUND:Enterohemorrhagic Escherichia coli (EHEC) are zoonotic agents associated with outbreaks worldwide. Growth of EHEC strains in ground beef could be inhibited by background microbiota that is present initially at levels greater than that of the pathogen E. coli. However, how the microbiota outcompetes the patho...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-017-3957-2
更新日期:2017-08-03 00:00:00
abstract:BACKGROUND:Several global transcriptomic and proteomic approaches have been applied in order to obtain new molecular insights on skeletal myogenesis, but none has generated any specific data on glycogenome expression, and thus on the role of glycan structures in this process, despite the involvement of glycoconjugates ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-10-483
更新日期:2009-10-20 00:00:00
abstract:BACKGROUND:The study and analysis of gene expression measurements is the primary focus of functional genomics. Once expression data is available, biologists are faced with the task of extracting (new) knowledge associated to the underlying biological phenomenon. Most often, in order to perform this task, biologists exe...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-14-S6-S2
更新日期:2013-10-25 00:00:00
abstract:BACKGROUND:HSP90 proteins are essential molecular chaperones involved in signal transduction, cell cycle control, stress management, and folding, degradation, and transport of proteins. HSP90 proteins have been found in a variety of organisms suggesting that they are ancient and conserved. In this study we investigate ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-7-156
更新日期:2006-06-17 00:00:00
abstract:BACKGROUND:Psoriasis is a chronic autoimmune disease in which T cells have a predominant role in initiating and perpetuating the chronic inflammation in skin. However, the mechanisms that regulate T cell activation in psoriasis are still incompletely understood. The objective of the present study was to characterize th...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-14-825
更新日期:2013-11-23 00:00:00
abstract:BACKGROUND:Candida albicans is a diploid pathogenic fungus not yet amenable to routine genetic investigations. Understanding aspects of the regulation of its biological functions and the assembly of its protein complexes would lead to further insight into the biology of this common disease-causing microbial agent. RES...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-9-578
更新日期:2008-12-02 00:00:00
abstract:BACKGROUND:Accurate de novo genome assembly has become reality with the advancements in sequencing technology. With the ever-increasing number of de novo genome assembly tools, assessing the quality of assemblies has become of great importance in genome research. Although many quality metrics have been proposed and sof...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-019-6070-x
更新日期:2019-09-11 00:00:00
abstract:BACKGROUND:Tandem repeats are ubiquitous and abundant in higher eukaryotic genomes and constitute, along with transposable elements, much of DNA underlying centromeres and other heterochromatic domains. In maize, centromeric satellite repeat (CentC) and centromeric retrotransposons (CR), a class of Ty3/gypsy retrotrans...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-14-142
更新日期:2013-03-04 00:00:00
abstract:BACKGROUND:There is strong but mostly circumstantial evidence that genetic factors modulate the severity of influenza infection in humans. Using genetically diverse but fully inbred strains of mice it has been shown that host sequence variants have a strong influence on the severity of influenza A disease progression. ...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/1471-2164-13-411
更新日期:2012-08-20 00:00:00
abstract:BACKGROUND:The technological revolution in next-generation sequencing has brought unprecedented opportunities to study any organism of interest at the genomic or transcriptomic level. Transcriptome assembly is a crucial first step for studying the molecular basis of phenotypes of interest using RNA-Sequencing (RNA-Seq)...
journal_title:BMC genomics
pub_type: 杂志文章
doi:10.1186/s12864-016-2923-8
更新日期:2016-07-27 00:00:00