Results 61 to 70 of about 80,852 (330)

Increased individual homozygosity is correlated with low fitness in a fragmented lizard population [PDF]

, 2019
Isolation owing to anthropogenic habitat fragmentation is expected to increase the homozygosity of individuals, which might reduce their fitness as a result of inbreeding depression.
Bloor, Paul, Díaz González-Serrano, José Augusto, Carbonell Alanís, Roberto, Pérez Tris, Javier, Llanos Garrido, Alejandro, Tellería Jorge, José Luis, Santos Martínez, Tomás   +6 more
core   +1 more source

Approaching autozygosity in a small pedigree of Gochu Asturcelta pigs

Genetics Selection Evolution, 2023
Background In spite of the availability of single nucleotide polymorphism (SNP) array data, differentiation between observed homozygosity and that caused by mating between relatives (autozygosity) introduces major difficulties.
Katherine D. Arias, Juan Pablo Gutiérrez, Iván Fernández, Isabel Álvarez, Félix Goyache   +4 more
doaj   +1 more source

Facial attractiveness is only weakly linked to genome–wide heterozygosity

Frontiers in Psychology, 2023
IntroductionIt has been frequently suggested that overall genomic heterozygosity and, particularly, heterozygosity of loci on the so-called major histocompatibility complex (MHC), which is responsible for the recognition of foreign substances/ pathogens ...
Martin Fieder, Martin Fieder, Susanne Huber   +2 more
doaj   +1 more source

APOE4 homozygosity represents a distinct genetic form of Alzheimer’s disease

Nature Medicine
This study aimed to evaluate the impact of APOE4 homozygosity on Alzheimer’s disease (AD) by examining its clinical, pathological and biomarker changes to see whether APOE4 homozygotes constitute a distinct, genetically determined form of AD.
J. Fortea, Jordi Pegueroles, D. Alcolea, O. Belbin, O. Dols-Icardo, L. Vaqué-Alcázar, L. Videla, J. Gispert, Marc Suárez-Calvet, S. Johnson, Reisa A. Sperling, A. Bejanin, A. Lleó, V. Montal   +13 more
semanticscholar   +1 more source

PMM2‐CDG caused by uniparental disomy: Case report and literature review

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) affects glycosylation pathways such as the N‐glycosylation pathway, resulting in loss of function of multiple proteins.
Laurien Vaes, George E. Tiller, Belén Pérez, Suzanne W. Boyer, Susan A. Berry, Kyriakie Sarafoglou, Eva Morava   +6 more
doaj   +1 more source

HomozygosityMapper--an interactive approach to homozygosity mapping [PDF]

Nucleic Acids Research, 2009
Homozygosity mapping is a common method for mapping recessive traits in consanguineous families. In most studies, applications for multipoint linkage analyses are applied to determine the genomic region linked to the disease. Unfortunately, these are neither suited for very large families nor for the inclusion of tens of thousands of SNPs. Even if less
Dominik Seelow, Markus Schuelke, Friedhelm Hildebrandt, Peter Nürnberg   +3 more
openaire   +2 more sources

Assessment of runs of homozygosity islands and estimates of genomic inbreeding in Gyr (Bos indicus) dairy cattle

BMC Genomics, 2018
Runs of homozygosity (ROH) are continuous homozygous segments of the DNA sequence. They have been applied to quantify individual autozygosity and used as a potential inbreeding measure in livestock species.
E. Peripolli, N. Stafuzza, D. Munari, A. L. Lima, R. Irgang, M. A. Machado, J. C. Panetto, R. Ventura, F. Baldi, M. B. D. Barbosa da Silva   +9 more
semanticscholar   +1 more source

A systematic approach to mapping recessive disease genes in individuals from outbred populations. [PDF]

PLoS Genetics, 2009
The identification of recessive disease-causing genes by homozygosity mapping is often restricted by lack of suitable consanguineous families. To overcome these limitations, we apply homozygosity mapping to single affected individuals from outbred ...
Friedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, Massimo Attanasio, Gudrun Nürnberg, Christian Becker, Dominik Seelow, Norbert Huebner, Gil Chernin, Christopher N Vlangos, Weibin Zhou, John F O'Toole, Bethan E Hoskins, Matthias T F Wolf, Bernward G Hinkes, Hassan Chaib, Shazia Ashraf, Dominik S Schoeb, Bugsu Ovunc, Susan J Allen, Virginia Vega-Warner, Eric Wise, Heather M Harville, Robert H Lyons, Joseph Washburn, James Macdonald, Peter Nürnberg, Edgar A Otto   +27 more
doaj   +1 more source

Genome-Wide Analysis Revealed Homozygosity and Demographic History of Five Chinese Sheep Breeds Adapted to Different Environments

Genes, 2020
Homozygosity of long sequence genotypes are a result of parents transmitting identical haplotypes, which can be used to estimate their auto-zygosity. Therefore, we used high-density SNP Chip data to characterize the auto-zygosity of each breed according ...
Adam Abied, Lei Xu, B. W. Sahlu, F. Xing, A. Ahbara, Y. Pu, Jiang Lin, H. Berihulay, R. Islam, Xiao-Hong He, J. Mwacharo, Qianjun Zhao, Yue-Hui Ma   +12 more
semanticscholar   +1 more source

JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease

, 2014
Genomic regions of acquired uniparental disomy (UPD) are common in malignancy and frequently harbor mutated oncogenes. Homozygosity for such gain-of-function mutations is thought to modulate tumor phenotype, but direct evidence has been elusive ...
Aziz, Athar, Chen, Edwin, Pask, Dean C., Silber, Yvonne, Silber, Y, Manning, Harriet, Rachel Sneade, Saeb-Parsy, K, Athar Aziz, Nangalia, J., Yvonne Silber, Hamilton, T.L., Anna L. Godfrey, Anthony R. Green, Aziz, A., Fink, J, Chen, E., Zhao, X, Green, AR, Nangalia, Jyoti, Xiaodong Zhao, Hamilton, TL, Pask, D.C., Fink, Juergen, Godfrey, AL, Zhao, X., Silber, Y., Sneade, Rachel, Dean C. Pask, Manning, H, Li, J., Ghevaert, Cedric, Find, J., Sneade, R., Sneade, R, Godfrey, Anna L., Kourosh Saeb-Parsy, Green, Anthony R., Liu, P., Li, J, Harriet Manning, Edwin Chen, Liu, P, Pask, DC, Ghevaert, C., Kent, DG, Juergen Fink, Saeb-Parsy, K., Juan Li, Pentao Liu, Nangalia, J, Chen, E, Green, A.R., Manning, H., Hamilton, Tina L., David G. Kent, Aziz, A, Ghevaert, C, Li, Juan, Saeb-Parsy, Kourosh, Kent, D.G., Kent, David G., Tina L. Hamilton, Godfrey, A.L., Zhao, Xiaodong, Cedric Ghevaert, Liu, Pentao, Jyoti Nangalia   +67 more
core   +1 more source