[HTML][HTML] The structure, function and evolution of a complete human chromosome 8
The complete assembly of each human chromosome is essential for understanding human
biology and evolution 1 , 2 . Here we use complementary long-read sequencing …
biology and evolution 1 , 2 . Here we use complementary long-read sequencing …
Segmental duplications and their variation in a complete human genome
MR Vollger, X Guitart, PC Dishuck, L Mercuri… - Science, 2022 - science.org
Despite their importance in disease and evolution, highly identical segmental duplications (SDs)
are among the last regions of the human reference genome (GRCh38) to be fully …
are among the last regions of the human reference genome (GRCh38) to be fully …
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility
…, M Escalona, NW Maurer, F Antonacci, L Mercuri… - Science, 2020 - science.org
INTRODUCTION The rhesus macaque (Macaca mulatta) is one of the most widely used
nonhuman primate (NHP) models for studying human biology and disease. As a representative …
nonhuman primate (NHP) models for studying human biology and disease. As a representative …
[HTML][HTML] A high-quality bonobo genome refines the analysis of hominid evolution
The divergence of chimpanzee and bonobo provides one of the few examples of recent
hominid speciation 1 , 2 . Here we describe a fully annotated, high-quality bonobo genome …
hominid speciation 1 , 2 . Here we describe a fully annotated, high-quality bonobo genome …
Recurrent inversion toggling and great ape genome evolution
Inversions play an important role in disease and evolution but are difficult to characterize
because their breakpoints map to large repeats. We increased by sixfold the number (n = 1,069…
because their breakpoints map to large repeats. We increased by sixfold the number (n = 1,069…
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
…, M Dellino, D Palmisano, L Mercuri… - Genome …, 2020 - genome.cshlp.org
Rhesus macaque is an Old World monkey that shared a common ancestor with human ∼25
Myr ago and is an important animal model for human disease studies. A deep …
Myr ago and is an important animal model for human disease studies. A deep …
A high-resolution map of small-scale inversions in the gibbon genome
L Mercuri, D Palmisano, A L'Abbate… - Genome …, 2022 - genome.cshlp.org
Gibbons are the most speciose family of living apes, characterized by a diverse chromosome
number and rapid rate of large-scale rearrangements. Here we performed single-cell …
number and rapid rate of large-scale rearrangements. Here we performed single-cell …
[HTML][HTML] Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates
FAM Maggiolini, L Mercuri, F Antonacci, F Anaclerio… - Genes, 2020 - mdpi.com
POTE (prostate, ovary, testis, and placenta expressed) genes belong to a primate-specific
gene family expressed in prostate, ovary, and testis as well as in several cancers including …
gene family expressed in prostate, ovary, and testis as well as in several cancers including …
[HTML][HTML] Mayer-Rokitansky-Küster-Hauser syndrome with 22q11. 21 microduplication: a case report
D Dell'Edera, A Allegretti, M Ventura, L Mercuri… - Journal of Medical Case …, 2021 - Springer
Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance
in Man [OMIM] #277000) is a congenital condition characterized by the total or partial …
in Man [OMIM] #277000) is a congenital condition characterized by the total or partial …
7q35q36. 3 deletion and concomitant 20q13. 2q13. 33 duplication in a newborn: familiar case
…, ADE Rosalba, MT Dell'Edera, AA Epifania, L Mercuri… - 2020 - researchsquare.com
Array-CGH is a powerful tool in identifying and characterizing complex genomic
rearrangements when classical cytogenetics approaches are not sensible enough in detecting …
rearrangements when classical cytogenetics approaches are not sensible enough in detecting …