BOL: Related items

Genetic basis of tail-loss evolution

LEGE — Tue, 04 Mar 2025 12:12:36 -0600

The paper "On the genetic basis of tail-loss evolution in humans and apes (https://www.nature.com/articles/s41586-024-07095-8)", published in Nature, investigates the genetic mechanisms that led to the loss of tails in humans and apes. The study suggests that a specific genetic mutation, involving the insertion of an Alu element (a type of transposable DNA sequence), played a critical role in the evolutionary transition from tailed primates to tailless hominoids.

Key Findings of the Study:

Alu Insertion and Tail Loss:
The researchers discovered an Alu-mediated genetic change in a common ancestor of modern apes and humans. This change disrupted the normal function of a gene involved in tail development, leading to the suppression of tail formation.
Gene Disruption Mechanism:
The Alu insertion was found within a regulatory region of the TBXT gene (also known as T or Brachyury), which is crucial for tail development in vertebrates. This insertion likely altered the gene's expression patterns, leading to tail reduction over evolutionary time.
Functional Evidence from Model Organisms:
To test their hypothesis, the researchers introduced similar genetic modifications in mice. The modified mice exhibited shortened or absent tails, supporting the idea that the identified mutation played a role in tail loss in hominoids.
Evolutionary Implications:
The findings suggest that small, random genomic changes—such as transposable element insertions—can have profound effects on body morphology. This study provides evidence that mobile DNA elements (like Alu) can drive major evolutionary transitions.
Relevance to Human Evolution:
Understanding the genetic basis of tail loss helps in reconstructing the evolutionary history of hominins (the lineage that includes humans and our extinct relatives). It also sheds light on how genetic variations contribute to anatomical diversity among primates.

Significance of the Study:

This research highlights the role of transposable elements in shaping evolutionary traits and provides a concrete genetic explanation for a defining characteristic of humans and great apes. It also demonstrates how mutations in regulatory regions of developmental genes can lead to significant anatomical changes.

Chromonomer: a tool set for repairing and enhancing assembled genomes through integration of genetic maps and conserved synteny

Jit — Mon, 17 Feb 2020 05:38:46 -0600

Chromonomer is a program designed to integrate a genome assembly with a genetic map. Chromonomer tries very hard to identify and remove markers that are out of order in the genetic map, when considered against their local assembly order; and to identify scaffolds that have been incorrectly assembled according to the genetic map, and split those scaffolds.

Address of the bookmark: http://catchenlab.life.illinois.edu/chromonomer/

RITA: Rapid identification of high-confidence taxonomic assignments for metagenomic data

Jit — Mon, 27 Nov 2017 08:25:33 -0600

RITA is a standalone software package and Web server for taxonomic assignment of metagenomic sequence reads. By combining homology predictions from BLAST or UBLAST with compositional classifications from a Naive Bayes classifier, RITA is able to achieve very high accuracy on short reads. Unlike other hybrid approaches which combine these predictions for all sequences to be classified, RITA uses a pipeline to first identify cases where both types of classifier are in agreement, which constitute the highest-confidence set. Sequences not classified in this manner are subjected to a series of downstream classification steps.

This work has been accepted for publication:

MacDonald NJ, Parks DH, and Beiko RG. Rapid identification of taxonomic assignments. Accepted to Nucleic Acids Research April 4, 2012.

If you have any questions or bug reports, please let us know at .

Address of the bookmark: http://kiwi.cs.dal.ca/Software/RITA

IgBLAST 1.17 is now available with improved identification of productive V gene sequences

Jit — Sun, 01 Nov 2020 16:52:58 -0600

A new release of IgBLAST (1.17), the popular package for classifying and analyzing immunoglobulin and T cell receptor sequences, is now available on the web and from the FTP site. The updated package is better at identifying productive V gene sequences. We added a new field , “V frame shift”, to the IgBLAST output to indicate whether the V gene translation frame contains a frame-shift. We have also updated the definition of a productive V(D)J sequence to now exclude those with internal frame shifts.

See the new IgBLAST manual on the NCBI GitHub site for more information on setting up and running IgBLAST.

If you have any questions or concerns, please email us at blast-help@ncbi.nlm.nih.gov

quarTeT: a telomere-to-telomere toolkit for gap-free genome assembly and centromeric repeat identification.

Abhi — Sat, 08 Jun 2024 15:54:36 -0500

quarTeT is a collection of tools for T2T genome assembly and basic analysis in automatic workflow.

Task include:

AssemblyMapper : reference-guided genome assembly
GapFiller : long-reads based gap filling
TeloExplorer : telomere identification
CentroMiner : centromere candidate prediction

https://academic.oup.com/hr/article/10/8/uhad127/7197191?login=false

Address of the bookmark: http://www.atcgn.com:8080/quarTeT/home.html

flutter

Neel — Fri, 29 Jan 2021 01:41:29 -0600

Flutter is Google’s UI toolkit for building beautiful, natively compiled applications for mobile, web, and desktop from a single codebase.

Address of the bookmark: https://flutter.dev/