[HTML][HTML] Roles for retrotransposon insertions in human disease

DC Hancks, HH Kazazian - Mobile DNA, 2016 - Springer
Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of
transposable elements (TE) such as retrotransposons. On a shorter time scale it has been …

[HTML][HTML] Restricting retrotransposons: a review

JL Goodier - Mobile DNA, 2016 - Springer
Retrotransposons have generated about 40% of the human genome. This review examines
the strategies the cell has evolved to coexist with these genomic “parasites”, focussing on …

From telomere to telomere: The transcriptional and epigenetic state of human repeat elements

SJ Hoyt, JM Storer, GA Hartley, PGS Grady… - Science, 2022 - science.org
Mobile elements and repetitive genomic regions are sources of lineage-specific genomic
innovation and uniquely fingerprint individual genomes. Comprehensive analyses of such …

[HTML][HTML] The complement system and human autoimmune diseases

SL Coss, D Zhou, GT Chua, RA Aziz, RP Hoffman… - Journal of …, 2023 - Elsevier
Genetic deficiencies of early components of the classical complement activation pathway
(especially C1q, r, s, and C4) are the strongest monogenic causal factors for the prototypic …

[HTML][HTML] Complement C4, infections, and autoimmune diseases

H Wang, M Liu - Frontiers in immunology, 2021 - frontiersin.org
Complement C4, a key molecule in the complement system that is one of chief constituents
of innate immunity for immediate recognition and elimination of invading microbes, plays an …

Active human retrotransposons: variation and disease

DC Hancks, HH Kazazian Jr - Current opinion in genetics & development, 2012 - Elsevier
Mobile DNAs, also known as transposons or 'jumping genes', are widespread in nature and
comprise an estimated 45% of the human genome. Transposons are divided into two …

Initial sequence of the chimpanzee genome and comparison with the human genome

… Sequencing and Analysis Consortium Waterson Robert … - Nature, 2005 - nature.com
Here we present a draft genome sequence of the common chimpanzee (Pan troglodytes).
Through comparison with the human genome, we have generated a largely complete …

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

PC White, PW Speiser - Endocrine reviews, 2000 - academic.oup.com
More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to
synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic …

LINE-1 elements in structural variation and disease

CR Beck, JL Garcia-Perez, RM Badge… - Annual review of …, 2011 - annualreviews.org
The completion of the human genome reference sequence ushered in a new era for the
study and discovery of human transposable elements. It now is undeniable that …

Biology of mammalian L1 retrotransposons

EM Ostertag, HH Kazazian Jr - Annual review of genetics, 2001 - annualreviews.org
▪ Abstract L1 retrotransposons comprise 17% of the human genome. Although most L1s are
inactive, some elements remain capable of retrotransposition. L1 elements have a long …