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Daniel Para Soto, Jace Baptista-Allan, Marcus Yeung

The newly completed genome.

Chromosomes are vital units of genetic information in organisms, including humans. These thread-like structures within eukaryotic cell nuclei consist of DNA wrapped around proteins, storing and organizing genetic code. Humans have 46 chromosomes in 23 pairs, with one pair determining sex (XY for males, XX for females). Chromosomes ensure accurate genetic material transfer during cell division, maintaining stability and enabling trait inheritance. Mutations can cause genetic disorders.


The Y chromosome, one of two human sex chromosomes, determines male biological sex. In females, there are typically two X chromosomes (XX), while males have one X and one Y (XY). The Y chromosome's SRY gene governs male traits by directing testes formation, leading to the development of male reproductive organs and secondary sexual characteristics. Despite its small size and fewer genes than the X chromosome, the Y chromosome is crucial for understanding sex determination and patrilineal lineage tracing.


Sequencing the Y chromosome is challenging due to repetitive DNA sequences, lack of recombination, its small size, and complex structures like palindromes and inverted repeats. Advanced sequencing and computational methods have improved accuracy, revealing insights into its genetics and evolution.


The Telomere-to-Telomere (T2T) consortium achieved a milestone by sequencing the human Y chromosome, enhancing upon the previous reference (GRCh38). T2T-Y corrected errors, added 30+ million base pairs, and detailed gene families. This fosters comprehensive understanding, better genetic variation mapping, and enhanced research. It underscores the value of complete reference genomes and advances genetic diversity and evolution studies.



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