Clarification on comments re Chromosome

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Need clarification on comments re Chromosome (rows 36)

Current Definition

DEFINITION: A structure composed of a very long molecule of DNA and associated proteins (e.g., histones) that carries hereditary information.

Comment Requested: In interest of re-using existing standards, should the above definition of Chromosome be replaced by the following from the NLM?

• An organized package of DNA found in the nucleus of the cell. Different organisms have different numbers of chromosomes. [Source: http://geneed.nlm.nih.gov/]

EXAMPLE(S): One of the 23 chromosomes in humans such as X chromosome.

• NEW EXAMPLE – Most humans have 23 pairs of chromosomes--22 pairs of numbered chromosomes, called autosomes, and one pair of sex chromosomes, X and Y

OTHER NAME(S):

NOTE(S):

Ballot Comment

the model must support noting the genomic coordinates and reference and observed alleles, as this is most frequently the level at which change is identified. Is this in chromosome or in another class.

Current Disposition

Pending Input From Submitter

Proposed Disposition Comment

Need CG and LSDAM SMEs to discuss what is the best way to model this requirement and whether/what changes are needed to BRIDG. If it’s not wrong as far as it goes, should we make this a future use case?

Proposed Definition

DEFINITION HAS BEEN APPROVED ALREADY, BUT REQUESTING APPROVAL ON EXAMPLE(S) SECTION

DEFINITION: A structural unit composed of a nucleic acid molecule which controls its own replication through the interaction of specific proteins at one or more origins of replication. [Sequence Ontology: SO:0000340 (SOWiki) http://www.sequenceontology.org/browser/current_svn/term/SO:0000340]

EXAMPLE(S): Most humans have 23 pairs of chromosomes--22 pairs of numbered chromosomes, called autosomes, and one pair of sex chromosomes, X and Y

OTHER NAME(S):

NOTE(S): This class can represent eukaryotic (e.g. human), mitochondrial, bacterial, and viral chromosomes, for example.

Outstanding Question

• The definition has already been approved so the remaining question is are the proposed examples consistent with the comprehensive, realistic and meaningful set of example values that uses the same overall scenario across all classes in the Molecular Biology sub-domain?

Responses

Lauren Becnel: The examples are easy to understand by experts and complete, inclusive of notes.

NO CHANGE NEEDED

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