Evolution of genetic and genomic features unique to the human lineage

Evolutionary History and Genome Organization of DUF1220 Protein Domains

(2013) Majesta S. O’Bleness et al.   G3-Genes Genomes Genetics

DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution

(2012) Laura J. Dumas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inhibition of SRGAP2 Function by Its Human-Specific Paralogs Induces Neoteny during Spine Maturation

(2012) Cécile Charrier et al.   CELL

Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

(2012) Megan Y. Dennis et al.   CELL

The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2

(2012) Mario Ventura et al.   GENOME RESEARCH

Extension of cortical synaptic development distinguishes humans from chimpanzees and macaques

(2012) X. Liu et al.   GENOME RESEARCH

Evolution of Siglec-11 and Siglec-16 Genes in Hominins

(2012) Xiaoxia Wang et al.   MOLECULAR BIOLOGY AND EVOLUTION

Insights into hominid evolution from the gorilla genome sequence

(2012) Aylwyn Scally et al.   NATURE

Comparative studies of gene expression and the evolution of gene regulation

(2012) Irene Gallego Romero et al.   NATURE REVIEWS GENETICS

Specific inactivation of two immunomodulatory SIGLEC genes during human evolution

(2012) X. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

(2012) M. Meyer et al.   SCIENCE

Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair

(2011) Marsha D. Speevak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Biomedical Differences Between Human and Nonhuman Hominids: Potential Roles for Uniquely Human Aspects of Sialic Acid Biology

(2011) Nissi M. Varki et al.   Annual Review of Pathology-Mechanisms of Disease

The chimeric gene CHRFAM7A, a partial duplication of the CHRNA7 gene, is a dominant negative regulator of α7*nAChR function

(2011) Tanguy Araud et al.   BIOCHEMICAL PHARMACOLOGY

Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies

(2011) H. Grallert et al.   EUROPEAN HEART JOURNAL

Expression of Siglec-11 by human and chimpanzee ovarian stromal cells, with uniquely human ligands: implications for human ovarian physiology and pathology

(2011) X. Wang et al.   GLYCOBIOLOGY

Impact of Intra- and Interspecies Variation of Occludin on Its Function as Coreceptor for Authentic Hepatitis C Virus Particles

(2011) S. Ciesek et al.   JOURNAL OF VIROLOGY

Human-specific loss of regulatory DNA and the evolution of human-specific traits

(2011) Cory Y. McLean et al.   NATURE

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Genetic Influences on Alzheimer’s Disease: Evidence of Interactions Between the Genes APOE, APOC1 and ACE in a Sample Population from the South of Brazil

(2011) Juliana Fagion Lucatelli et al.   NEUROCHEMICAL RESEARCH

Guiding Limited Use of Chimpanzees in Research

(2011) B. M. Altevogt et al.   SCIENCE

Thyroid hormones, mitochondrial bioenergetics and lipid handling

(2011) Federica Cioffi et al.   Current Opinion in Endocrinology Diabetes and Obesity

An Evolutionary Genomic Approach to Identify Genes Involved in Human Birth Timing

(2011) Jevon Plunkett et al.   PLoS Genetics

De Novo Origin of Human Protein-Coding Genes

(2011) Dong-Dong Wu et al.   PLoS Genetics

Identification of human-specific transcript variants induced by DNA insertions in the human genome

(2010) Dong Seon Kim et al.   BIOINFORMATICS

Evolution of alternative splicing in primate brain transcriptomes

(2010) Lan Lin et al.   HUMAN MOLECULAR GENETICS

Comparative expression analysis of the phosphocreatine circuit in extant primates: Implications for human brain evolution

(2010) Adam D. Pfefferle et al.   JOURNAL OF HUMAN EVOLUTION

Relative Over-Reactivity of Human versus Chimpanzee Lymphocytes: Implications for the Human Diseases Associated with Immune Activation

(2010) P. C. Soto et al.   JOURNAL OF IMMUNOLOGY

Alleviation of Neurotoxicity by Microglial Human Siglec-11

(2010) Y. Wang et al.   JOURNAL OF NEUROSCIENCE

Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients

(2010) Ester Saus et al.   JOURNAL OF PSYCHIATRIC RESEARCH

Genetic history of an archaic hominin group from Denisova Cave in Siberia

(2010) David Reich et al.   NATURE

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

Divergence, demography and gene loss along the human lineage

(2010) H. L. Kim et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Structural and Functional Characterization of Human Peripheral Nervous System Myelin Protein P2

(2010) Viivi Majava et al.   PLoS One

Uniquely human evolution of sialic acid genetics and biology

(2010) A. Varki   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection

(2010) S. R. Grossman et al.   SCIENCE

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?

(2010) Tatjana Singer et al.   TRENDS IN NEUROSCIENCES

A Human-Specific De Novo Protein-Coding Gene Associated with Human Brain Functions

(2010) Chuan-Yun Li et al.   PLoS Computational Biology

A Humanized Version of Foxp2 Affects Cortico-Basal Ganglia Circuits in Mice

(2009) Wolfgang Enard et al.   CELL

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

ORIGINAL ARTICLE: Heart disease is common in humans and chimpanzees, but is caused by different pathological processes

(2009) Nissi Varki et al.   Evolutionary Applications

Sex-specific and lineage-specific alternative splicing in primates

(2009) R. Blekhman et al.   GENOME RESEARCH

Recent de novo origin of human protein-coding genes

(2009) D. G. Knowles et al.   GENOME RESEARCH

Gain of new exons and promoters by lineage-specific transposable elements-integration and conservation event on CHRM3 gene

(2009) Jae-Won Huh et al.   MOLECULES AND CELLS

L1 retrotransposition in human neural progenitor cells

(2009) Nicole G. Coufal et al.   NATURE

A burst of segmental duplications in the genome of the African great ape ancestor

(2009) Tomas Marques-Bonet et al.   NATURE

Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease

(2009) Minerva M Carrasquillo et al.   NATURE GENETICS

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

The impact of retrotransposons on human genome evolution

(2009) Richard Cordaux et al.   NATURE REVIEWS GENETICS

The DISC1 Pathway Modulates Expression of Neurodevelopmental, Synaptogenic and Sensory Perception Genes

(2009) William Hennah et al.   PLoS One

Complex Evolution of a Y-Chromosomal Double Homeobox 4 (DUX4)-Related Gene Family in Hominoids

(2009) Julia Schmidt et al.   PLoS One

Sex-dependent association of common variants of microcephaly genes with brain structure

(2009) L. M. Rimol et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hotspots of Biased Nucleotide Substitutions in Human Genes

(2009) Jonas Berglund et al.   PLOS BIOLOGY

Molecular evolution of the cytochrome c oxidase subunit 5A gene in primates

(2008) Monica Uddin et al.   BMC EVOLUTIONARY BIOLOGY

Severe Preeclampsia-Related Changes in Gene Expression at the Maternal-Fetal Interface Include Sialic Acid-Binding Immunoglobulin-Like Lectin-6 and Pappalysin-2

(2008) Virginia D. Winn et al.   ENDOCRINOLOGY

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Human uniqueness: genome interactions with environment, behaviour and culture

(2008) Ajit Varki et al.   NATURE REVIEWS GENETICS

Mutations and Polymorphisms of the FSH Receptor (FSHR) Gene

(2008) Cristina Lussiana et al.   OBSTETRICAL & GYNECOLOGICAL SURVEY

Evidence for positive selection on Protocadherin Y gene in Homo sapiens: Implications for schizophrenia

(2008) Sunil V. Kalmady et al.   SCHIZOPHRENIA RESEARCH

Human-Specific Gain of Function in a Developmental Enhancer

(2008) S. Prabhakar et al.   SCIENCE

Metabolic changes in schizophrenia and human brain evolution

(2008) Philipp Khaitovich et al.   GENOME BIOLOGY