The success of the Human Genome Project (HGP) has provided a blueprint for the approximately 20,000 gene-encoded proteins potentially active in all of the hundreds of cell types that make up the human body. Yet we still have limited knowledge about a majority of the gene-encoded proteins which are the “building blocks of life” and “cellular machinery”. It is estimated that for nearly half of th...

Cultural practices can deeply influence genetic diversity patterns. The Neolithic transitions that took place at different times and locations around the world led to major cultural and demographic changes that influenced and therefore left their marks on human genetic diversity patterns. Several studies on the European Neolithic transition suggest that mitochondrial DNA (mtDNA) and Y-chromosom...

CC-BY 4.0 International license peer-reviewed) is the author/funder. It is made available under a The copyright holder for this preprint (which was not. Abstract Due to the lack of recombination, the male-specific region of the Y chromosome (MSY) is a unique resource for tracking the genetic history of populations. The MSY is also enriched for large, nearly identical repetitive regions known as...

objective: microdeletions of the y chromosome long arm are the most common molecular genetic causes of severe infertility in men. they affect three regions including azoospermia factors (azfa, azfb and azfc), which contain various genes involved in spermatogenesis. the aim of the present study was to reveal the patterns of y chromosome microdeletions in iranian infertile men referred to royan i...

The Human Genome Project has generated a blueprint for the approximately 20,300 gene-encoded proteins potentially active in any of 230 cell types that make up the human body (human proteome). However, based on the UniProtKB/Swiss-Prot database content, about 6000 of at the protein level; for many others, there is very little information related to protein function, abundance, subcellular locali...

The central region of Brazil was colonized by internal migration of individuals of different origins, who contributed to the genetic diversity existing in this population. This study determined the allele frequencies and haplotype diversity of Y-STRs in Goiás State, Central Brazil, and compared the data obtained with a sample of the Brazilian population, consisting of individuals from the five ...

The relative importance of the roles of adaptation and chance in determining genetic diversity and evolution has received attention in the last 50 years, but our understanding is still incomplete. All statements about the relative effects of evolutionary factors, especially drift, need confirmation by strong demographic observations, some of which are easier to obtain in a species like ours. Ea...

Objective Approximately 15 percent of couples are infertile. The male factor is responsible for approximately 50% of the cases. One of the main genetic factors playing a role in male infertility is Y chromosomal microdeletion within the proximal long arm of the Y chromosome (Yq11), named azoospermia factor (AZF) region. Recent studies have also demonstrated that there is a potential connection ...

The nonrecombining portion of the human Y chromosome has proven to be a valuable tool for the study of population history. The maintenance of extended haplotypes characteristic of particular geographic regions, despite extensive admixture, allows complex demographic events to be deconstructed. In this study we report the frequencies of 23 Y-chromosome biallelic polymorphism haplotypes in 1,935 ...

The male-specific regions of primate Y-chromosomes (MSY) are enriched for multi-copy genes highly expressed in the testis. These genes are located in large repetitive sequences arranged as palindromes, inverted-, and tandem repeats termed amplicons. In humans, these genes have critical roles in male fertility and are essential for the production of sperm. The structure of human and chimpanzee a...