[HTML][HTML] Genetics of the human Y chromosome and its association with male infertility

S Colaco, D Modi - Reproductive biology and endocrinology, 2018 - Springer
The human Y chromosome harbors genes that are responsible for testis development and
also for initiation and maintenance of spermatogenesis in adulthood. The long arm of the Y …

[HTML][HTML] Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism

M Bonomi, V Rochira, D Pasquali, G Balercia… - Journal of …, 2017 - Springer
Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and
genetic presentation. The relationship between clinical phenotype and genetic background …

GENESPACE tracks regions of interest and gene copy number variation across multiple genomes

JT Lovell, A Sreedasyam, ME Schranz, M Wilson… - elife, 2022 - elifesciences.org
The development of multiple chromosome-scale reference genome sequences in many
taxonomic groups has yielded a high-resolution view of the patterns and processes of …

[HTML][HTML] COVID-19 and individual genetic susceptibility/receptivity: role of ACE1/ACE2 genes, immunity, inflammation and coagulation. Might the double X …

D Gemmati, B Bramanti, ML Serino… - International journal of …, 2020 - mdpi.com
In December 2019, a novel severe acute respiratory syndrome (SARS) from a new
coronavirus (SARS-CoV-2) was recognized in the city of Wuhan, China. Rapidly, it became …

[HTML][HTML] Telomere-to-telomere assembly of a complete human X chromosome

KH Miga, S Koren, A Rhie, MR Vollger, A Gershman… - Nature, 2020 - nature.com
After two decades of improvements, the current human reference genome (GRCh38) is the
most accurate and complete vertebrate genome ever produced. However, no single …

[HTML][HTML] Landscape of X chromosome inactivation across human tissues

T Tukiainen, AC Villani, A Yen, MA Rivas, JL Marshall… - Nature, 2017 - nature.com
X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes
in female mammalian cells to balance expression dosage between XX females and XY …

[HTML][HTML] Recombination between heterologous human acrocentric chromosomes

A Guarracino, S Buonaiuto, LG de Lima, T Potapova… - Nature, 2023 - nature.com
The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share
large homologous regions, including ribosomal DNA repeats and extended segmental …

Ancient admixture in human history

N Patterson, P Moorjani, Y Luo, S Mallick, N Rohland… - Genetics, 2012 - academic.oup.com
Population mixture is an important process in biology. We present a suite of methods for
learning about population mixtures, implemented in a software package called …

[HTML][HTML] The complete sequence and comparative analysis of ape sex chromosomes

KD Makova, BD Pickett, RS Harris, GA Hartley… - Nature, 2024 - nature.com
Apes possess two sex chromosomes—the male-specific Y chromosome and the X
chromosome, which is present in both males and females. The Y chromosome is crucial for …

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

DW Bellott, JF Hughes, H Skaletsky, LG Brown… - Nature, 2014 - nature.com
The human X and Y chromosomes evolved from an ordinary pair of autosomes, but millions
of years ago genetic decay ravaged the Y chromosome, and only three per cent of its …